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PROS1, IVS10DS, G-A, +5

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Feb 1, 1994
Accession:
VCV000013319.1
Variation ID:
13319
Description:
single nucleotide variant
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PROS1, IVS10DS, G-A, +5

Allele ID
28358
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
3q11.2
Genomic location
-
HGVS
-
Protein change
-
Other names
IVS10DS, G-A, +5
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 176880.0004
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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 Feb 1, 1994 RCV000014247.25
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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
(Feb 01, 1994)
no assertion criteria provided
Method: literature only
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
Allele origin: germline
OMIM
Accession: SCV000034495.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. Reitsma PH The Journal of clinical investigation 1994 PMID: 8113388

Record last updated Sep 10, 2019