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NM_000313.4(PROS1):c.*119T>C AND Protein S deficiency disease

Germline classification:
Uncertain significance (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:
RCV002244826.2

Allele description [Variation Report for NM_000313.4(PROS1):c.*119T>C]

NM_000313.4(PROS1):c.*119T>C

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.*119T>C
HGVS:
  • NC_000003.12:g.93874126A>G
  • NG_009813.1:g.104965T>C
  • NM_000313.4:c.*119T>CMANE SELECT
  • NM_001314077.2:c.*119T>C
  • LRG_572t1:c.*119T>C
  • LRG_572:g.104965T>C
  • NC_000003.11:g.93592970A>G
  • NM_000313.3:c.*119T>C
Links:
dbSNP: rs886058924
NCBI 1000 Genomes Browser:
rs886058924
Molecular consequence:
  • NM_000313.4:c.*119T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001314077.2:c.*119T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002515545ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515545.1

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

Last Updated: May 7, 2024