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rs80338908

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 tendency for multiple cutaneous and mucosal venous malformations
Make rs80338908(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position27206762
GeneTEK
is asnp
is mentioned by
dbSNPrs80338908
ebirs80338908
HLIrs80338908
Exacrs80338908
Varsomers80338908
Maprs80338908
PheGenIrs80338908
hapmaprs80338908
1000 genomesrs80338908
hgdprs80338908
ensemblrs80338908
gopubmedrs80338908
geneviewrs80338908
scholarrs80338908
googlers80338908
pharmgkbrs80338908
gwascentralrs80338908
openSNPrs80338908
23andMers80338908
23andMe allrs80338908
SNP Nexus

SNPshotrs80338908
SNPdbers80338908
MSV3drs80338908
GWAS Ctlgrs80338908
Max Magnitude5

rs80338908, also known as c.2545C>T, p.Arg849Trp and R849W, represents a mutation in the TEK gene on chromosome 9.

The rare minor allele for this SNP is reported to cause Multiple cutaneous and mucosal venous malformations.

OMIM600221
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338908(T;T)
Alt rs80338908(T;T)
Reference rs80338908(C;C)
Significance Pathogenic
Disease Multiple Cutaneous and Mucosal Venous Malformations
Variation info
Gene TEK
CLNDBN Multiple Cutaneous and Mucosal Venous Malformations
Reversed 0
HGVS NC_000009.11:g.27206760C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009876.2,


[PMID 8415706OA-icon.png] Tie-1 and tie-2 define another class of putative receptor tyrosine kinase genes expressed in early embryonic vascular system.

[PMID 8980225] Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2.

[PMID 9926914] Endothelial receptor tyrosine kinases activate the STAT signaling pathway: mutant Tie-2 causing venous malformations signals a distinct STAT activation response.

[PMID 23566851] Association study between of Tie2/angiopoietin-2 and VEGF/KDR pathway gene polymorphisms and vascular malformations