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NM_001314077.1(PROS1):c.1159C>T (p.Arg387Cys)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 1, 2012)
Last evaluated:
Dec 14, 2010
Accession:
VCV000029846.1
Variation ID:
29846
Description:
single nucleotide variant
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NM_001314077.1(PROS1):c.1159C>T (p.Arg387Cys)

Allele ID
38801
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q11.1
Genomic location
3: 93893025 (GRCh38) GRCh38 UCSC
3: 93611869 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.12:g.93893025G>A
NC_000003.11:g.93611869G>A
NM_000313.3:c.1063C>T NP_000304.2:p.Arg355Cys missense
... more HGVS
Protein change
R355C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
Links
OMIM: 176880.0009
dbSNP: rs387906674
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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 14, 2010 RCV000022724.25
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PROS1 - - GRCh38
GRCh37
128 148

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 14, 2010)
no assertion criteria provided
Method: literature only
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
Allele origin: germline
OMIM
Accession: SCV000044013.3
Submitted: (Mar 01, 2012)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation. Leung TW Neurology 2010 PMID: 21172841

Record last updated Sep 10, 2019