Annotation Detail

Information

Associated Genes: F5
Associated Variants: NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Ischemic stroke
F5 p.Arg534Gln (p.R534Q) ( ENST00000367796.3, ENST00000367797.9 )
Associated Disease: Pregnancy loss, recurrent, susceptibility to, 1
Source Database: ClinVar
Description: NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Pregnancy loss, recurrent, susceptibility to, 1
ClinVar Allele ID: 15681
ClinVar RefSeq Alternation Syntax: NM_000130.5:c.1601G>A
Clinical Significance Description: risk factor
Clinical Significance Last Update: 2006-06-15
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000023935
ClinVar Disease: Pregnancy loss, recurrent, susceptibility to, 1
Observed Origin Sample: germline
Pubmed: 7586244
Pubmed: 10477778
Pubmed: 15534175
Pubmed: 9245936
Pubmed: 9339109
Pubmed: 15638861
Pubmed: 9372726
Pubmed: 9734642
Pubmed: 7910348
Pubmed: 7911872
Pubmed: 8164741
Pubmed: 9459326
Pubmed: 10348711
Pubmed: 10666427
Pubmed: 8616100
Pubmed: 16493002
Pubmed: 8049422
Pubmed: 7803250
Pubmed: 10507841
Pubmed: 10328130
Pubmed: 8822583
Pubmed: 9518910
Pubmed: 8164730
Pubmed: 9454741
Pubmed: 9415695
Pubmed: 11686338
Pubmed: 11018168
Pubmed: 10494770
Pubmed: 8566967
Pubmed: 14996674
Pubmed: 7877648

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