-
Notifications
You must be signed in to change notification settings - Fork 2
Commit
…symbol
- Loading branch information
There are no files selected for viewing
Some generated files are not rendered by default. Learn more about how customized files appear on GitHub.
Some generated files are not rendered by default. Learn more about how customized files appear on GitHub.
Some generated files are not rendered by default. Learn more about how customized files appear on GitHub.
Some generated files are not rendered by default. Learn more about how customized files appear on GitHub.
Some generated files are not rendered by default. Learn more about how customized files appear on GitHub.
Some generated files are not rendered by default. Learn more about how customized files appear on GitHub.
Some generated files are not rendered by default. Learn more about how customized files appear on GitHub.
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,110 @@ | ||
### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### | ||
## Filter: (gene_public = A1BG) | ||
# charset = UTF-8 | ||
|
||
## Genes ## Do not remove or alter this header ## | ||
## Count = 1 | ||
"{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" | ||
"A1BG" "alpha-1-B glycoprotein" "19" "q13.43" "unknown" "NC_000019.9" "UD_132611092394" "" "http://www.LOVD.nl/A1BG" "" "1" "5" "1" "138670" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/A1BG_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2015-12-13 09:24:24" "00006" "2022-01-23 11:30:18" | ||
|
||
|
||
## Transcripts ## Do not remove or alter this header ## | ||
## Count = 1 | ||
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" | ||
"00001331" "A1BG" "alpha-1-B glycoprotein" "001" "NM_130786.3" "" "NP_570602.2" "" "" "" "-62" "1704" "1488" "58858172" "58864865" "00000" "2012-09-13 13:27:02" "" "" | ||
|
||
|
||
## Diseases ## Do not remove or alter this header ## | ||
## Count = 2 | ||
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" | ||
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" | ||
"04254" "CLP" "cleft lip, cleft palate (CLP)" "" "" "" "" "" "00006" "2015-05-08 09:59:28" "00006" "2015-05-08 10:00:15" | ||
|
||
|
||
## Genes_To_Diseases ## Do not remove or alter this header ## | ||
## Count = 0 | ||
|
||
|
||
## Individuals ## Do not remove or alter this header ## | ||
## Count = 3 | ||
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" | ||
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" | ||
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" | ||
"00231413" "" "" "" "3" "" "03278" "{PMID:Cox 2019:31215115}" "3-generation family, 3 affected (2F, M)" "F;M" "" "Colombia" "" "0" "" "" "" "Fam22" | ||
|
||
|
||
## Individuals_To_Diseases ## Do not remove or alter this header ## | ||
## Count = 3 | ||
"{{individualid}}" "{{diseaseid}}" | ||
"00000208" "01157" | ||
"00000209" "01157" | ||
"00231413" "04254" | ||
|
||
|
||
## Phenotypes ## Do not remove or alter this header ## | ||
## Note: Only showing Phenotype columns active for Diseases 01157, 04254 | ||
## Count = 3 | ||
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" | ||
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" | ||
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" | ||
"0000173805" "04254" "00231413" "03278" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" | ||
|
||
|
||
## Screenings ## Do not remove or alter this header ## | ||
## Count = 3 | ||
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" | ||
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" | ||
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" | ||
"0000232512" "00231413" "1" "03278" "03278" "2019-05-02 18:06:52" "" "" "SEQ-NG-I" "DNA" "" "" | ||
|
||
|
||
## Screenings_To_Genes ## Do not remove or alter this header ## | ||
## Count = 1 | ||
"{{screeningid}}" "{{geneid}}" | ||
"0000232512" "FST" | ||
|
||
|
||
## Variants_On_Genome ## Do not remove or alter this header ## | ||
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. | ||
## Count = 11 | ||
"{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" | ||
"0000002698" "3" "50" "19" "58858614" "58858614" "del" "0" "00037" "A1BG_000004" "g.58858614del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.58347248del" "" "VUS" "" | ||
"0000010704" "3" "50" "19" "58858614" "58858614" "del" "0" "00037" "A1BG_000004" "g.58858614del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.58347248del" "" "VUS" "" | ||
"0000013878" "3" "50" "19" "58858676" "58858676" "subst" "0.922338" "00037" "A1BG_000003" "g.58858676A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.58347310A>G" "" "VUS" "" | ||
"0000193885" "3" "50" "19" "58858719" "58858719" "subst" "0" "00006" "A1BG_000005" "g.58858719C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58347353C>T" "" "VUS" "" | ||
"0000193887" "3" "50" "19" "58858719" "58858719" "subst" "0" "00006" "A1BG_000005" "g.58858719C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58347353C>T" "" "VUS" "" | ||
"0000193889" "3" "50" "19" "58858719" "58858719" "subst" "0" "00006" "A1BG_000005" "g.58858719C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58347353C>T" "" "VUS" "" | ||
"0000193891" "3" "50" "19" "58858719" "58858719" "subst" "0" "00006" "A1BG_000005" "g.58858719C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58347353C>T" "" "VUS" "" | ||
"0000193895" "3" "50" "19" "58858719" "58858719" "subst" "0" "00006" "A1BG_000005" "g.58858719C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58347353C>T" "" "VUS" "" | ||
"0000193897" "3" "50" "19" "58858719" "58858719" "subst" "0" "00006" "A1BG_000005" "g.58858719C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.58347353C>T" "" "VUS" "" | ||
"0000480548" "0" "70" "19" "58858937" "58858937" "subst" "0" "03278" "A1BG_000007" "g.58858937A>G" "" "{PMID:Cox 2019:31215115}" "" "" "" "Germline" "" "" "0" "" "" "g.58347571A>G" "" "VUS" "" | ||
"0000568608" "0" "30" "19" "58868716" "58868716" "subst" "0.00112904" "01804" "ZNF497_000004" "g.58868716G>C" "" "" "" "ZNF497(NM_001207009.1):c.286C>G (p.(Arg96Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58357350G>C" "" "likely benign" "" | ||
|
||
|
||
## Variants_On_Transcripts ## Do not remove or alter this header ## | ||
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. | ||
## Note: Only showing Variants_On_Transcript columns active for Genes A1BG | ||
## Count = 11 | ||
"{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" | ||
"0000002698" "00001331" "50" "1480" "105" "1480" "105" "c.1480+105del" "r.(=)" "p.(=)" "" | ||
"0000010704" "00001331" "50" "1480" "105" "1480" "105" "c.1480+105del" "r.(=)" "p.(=)" "" | ||
"0000013878" "00001331" "50" "1480" "43" "1480" "43" "c.1480+43T>C" "r.(=)" "p.(=)" "" | ||
"0000193885" "00001331" "50" "1480" "0" "1480" "0" "c.1480G>A" "r.1490g>a" "p.(Glu494Lys)" "" | ||
"0000193887" "00001331" "50" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Glu494Lys)" "" | ||
"0000193889" "00001331" "50" "1480" "0" "1480" "0" "c.1480G>A" "r.1490g>a" "p.(Glu494Lys)" "" | ||
"0000193891" "00001331" "50" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Glu494Lys)" "" | ||
"0000193895" "00001331" "50" "1480" "0" "1480" "0" "c.1480G>A" "r.1490g>a" "p.(Glu494Lys)" "" | ||
"0000193897" "00001331" "50" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Glu494Lys)" "" | ||
"0000480548" "00001331" "70" "1262" "0" "1262" "0" "c.1262T>C" "r.(?)" "p.(Leu421Pro)" "" | ||
"0000568608" "00001331" "30" "-3913" "0" "-3913" "0" "c.-3913C>G" "r.(?)" "p.(=)" "" | ||
|
||
|
||
## Screenings_To_Variants ## Do not remove or alter this header ## | ||
## Count = 4 | ||
"{{screeningid}}" "{{variantid}}" | ||
"0000000209" "0000002698" | ||
"0000000210" "0000010704" | ||
"0000000210" "0000013878" | ||
"0000232512" "0000480548" | ||
|
||
|