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NM_000313.4(PROS1):c.1528G>A (p.Val510Met) AND Protein S deficiency disease

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002243821.3

Allele description [Variation Report for NM_000313.4(PROS1):c.1528G>A (p.Val510Met)]

NM_000313.4(PROS1):c.1528G>A (p.Val510Met)

Gene:
PROS1:protein S [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q11.1
Genomic location:
Preferred name:
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)
HGVS:
  • NC_000003.12:g.93879279C>T
  • NG_009813.1:g.99812G>A
  • NM_000313.4:c.1528G>AMANE SELECT
  • NM_001314077.2:c.1624G>A
  • NP_000304.2:p.Val510Met
  • NP_000304.2:p.Val510Met
  • NP_001301006.1:p.Val542Met
  • LRG_572t1:c.1528G>A
  • LRG_572:g.99812G>A
  • LRG_572p1:p.Val510Met
  • NC_000003.11:g.93598123C>T
  • NM_000313.3:c.1528G>A
Protein change:
V510M
Links:
dbSNP: rs138925964
NCBI 1000 Genomes Browser:
rs138925964
Molecular consequence:
  • NM_000313.4:c.1528G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001314077.2:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Protein S deficiency disease
Synonyms:
Protein S deficiency
Identifiers:
MONDO: MONDO:0002304; MeSH: D018455; MedGen: C0242666

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002515540ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
no assertion criteria provided
Likely pathogenicunknownresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515540.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024