Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338796

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338796(C;T)
Make rs80338796(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position12604200
GeneRAF1
is asnp
is mentioned by
dbSNPrs80338796
ebirs80338796
HLIrs80338796
Exacrs80338796
Varsomers80338796
Maprs80338796
PheGenIrs80338796
hapmaprs80338796
1000 genomesrs80338796
hgdprs80338796
ensemblrs80338796
gopubmedrs80338796
geneviewrs80338796
scholarrs80338796
googlers80338796
pharmgkbrs80338796
gwascentralrs80338796
openSNPrs80338796
23andMers80338796
23andMe allrs80338796
SNP Nexus

SNPshotrs80338796
SNPdbers80338796
MSV3drs80338796
GWAS Ctlgrs80338796
Max Magnitude0
OMIM164760
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338796(G,T;G,T)
Alt rs80338796(G,T;G,T)
Reference rs80338796(C;C)
Significance Pathogenic
Disease Noonan syndrome 5 LEOPARD syndrome 2 Noonan syndrome with multiple lentigines Rasopathy Noonan syndrome not provided
Variation info
Gene RAF1
CLNDBN Noonan syndrome 5 LEOPARD syndrome 2 Noonan syndrome with multiple lentigines Rasopathy Noonan syndrome not provided
Reversed 1
HGVS NC_000003.11:g.12645699G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014985.23, RCV000014986.21, RCV000020509.1, RCV000149826.3, RCV000157426.2, RCV000157685.1,


[PMID 17603483] Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.