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rs80338797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338797(C;G)
Make rs80338797(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position12584624
GeneRAF1
is asnp
is mentioned by
dbSNPrs80338797
ebirs80338797
HLIrs80338797
Exacrs80338797
Varsomers80338797
Maprs80338797
PheGenIrs80338797
hapmaprs80338797
1000 genomesrs80338797
hgdprs80338797
ensemblrs80338797
gopubmedrs80338797
geneviewrs80338797
scholarrs80338797
googlers80338797
pharmgkbrs80338797
gwascentralrs80338797
openSNPrs80338797
23andMers80338797
23andMe allrs80338797
SNP Nexus

SNPshotrs80338797
SNPdbers80338797
MSV3drs80338797
GWAS Ctlgrs80338797
Max Magnitude0
OMIM164760
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80338797(G;G)
Alt rs80338797(G;G)
Reference rs80338797(C;C)
Significance Pathogenic
Disease LEOPARD syndrome 2 Noonan syndrome 5 Noonan syndrome with multiple lentigines Rasopathy
Variation info
Gene RAF1
CLNDBN LEOPARD syndrome 2 Noonan syndrome 5 Noonan syndrome with multiple lentigines Rasopathy
Reversed 1
HGVS NC_000003.11:g.12626123G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014989.26, RCV000014990.24, RCV000020508.1, RCV000159089.1,


[PMID 17603482] Germline gain-of-function mutations in RAF1 cause Noonan syndrome.


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