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NM_021167.4(GATAD1):c.304T>C (p.Ser102Pro)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 5, 2012)
Last evaluated:
Dec 1, 2011
Accession:
VCV000031656.1
Variation ID:
31656
Description:
single nucleotide variant
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NM_021167.4(GATAD1):c.304T>C (p.Ser102Pro)

Allele ID
40332
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.2
Genomic location
7: 92448806 (GRCh38) GRCh38 UCSC
7: 92078120 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.92078120T>C
NC_000007.14:g.92448806T>C
NM_021167.4:c.304T>C NP_066990.3:p.Ser102Pro missense
... more HGVS
Protein change
S102P
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 614518.0001
dbSNP: rs387907188
UniProtKB: Q8WUU5#VAR_068556
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 1, 2011 RCV000024350.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GATAD1 - - GRCh38
GRCh37
48 158

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 2011)
no assertion criteria provided
Method: literature only
CARDIOMYOPATHY, DILATED, 2B (1 family)
Allele origin: germline
OMIM
Accession: SCV000045643.2
Submitted: (Jun 05, 2012)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. Theis JL Circulation. Cardiovascular genetics 2011 PMID: 21965549

Record last updated Mar 29, 2019