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NM_000130.5(F5):c.5245C>G (p.Leu1749Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 1, 2020
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:
RCV001270592.2

Allele description [Variation Report for NM_000130.5(F5):c.5245C>G (p.Leu1749Val)]

NM_000130.5(F5):c.5245C>G (p.Leu1749Val)

Gene:
F5:coagulation factor V [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.2
Genomic location:
Preferred name:
NM_000130.5(F5):c.5245C>G (p.Leu1749Val)
HGVS:
  • NC_000001.11:g.169529782G>C
  • NG_011806.1:g.61750C>G
  • NM_000130.5:c.5245C>GMANE SELECT
  • NP_000121.2:p.Leu1749Val
  • LRG_553t1:c.5245C>G
  • LRG_553:g.61750C>G
  • NC_000001.10:g.169499020G>C
  • NC_000001.10:g.169499020G>C
  • NM_000130.4:c.5245C>G
Protein change:
L1749V
Links:
dbSNP: rs6034
NCBI 1000 Genomes Browser:
rs6034
Molecular consequence:
  • NM_000130.5:c.5245C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormal bleeding
Identifiers:
MedGen: C1458140; Human Phenotype Ontology: HP:0001892
Name:
Thrombocytopenia
Identifiers:
MONDO: MONDO:0002049; MeSH: D013921; MedGen: C0040034; Human Phenotype Ontology: HP:0001873

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001450891Birmingham Platelet Group; University of Birmingham
no assertion criteria provided
Uncertain significance
(May 1, 2020)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Birmingham Platelet Group; University of Birmingham, SCV001450891.1

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

Last Updated: Sep 29, 2024