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rs28941779

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 9 Frasier syndrome mutation
(T;T) 0 common in clinvar


Make rs28941779(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position32392026
GeneWT1
is asnp
is mentioned by
dbSNPrs28941779
ebirs28941779
HLIrs28941779
Exacrs28941779
Varsomers28941779
Maprs28941779
PheGenIrs28941779
hapmaprs28941779
1000 genomesrs28941779
hgdprs28941779
ensemblrs28941779
gopubmedrs28941779
geneviewrs28941779
scholarrs28941779
googlers28941779
pharmgkbrs28941779
gwascentralrs28941779
openSNPrs28941779
23andMers28941779
23andMe allrs28941779
SNP Nexus

SNPshotrs28941779
SNPdbers28941779
MSV3drs28941779
GWAS Ctlgrs28941779
Max Magnitude9

rs28941779, also known as Phe392Leu or F392L, is a SNP in the WT1 gene on chromosome 11.

A report links a mutation at this SNP to the rare disease known as Frasier syndrome, which has similarities to Denys-Drash syndrome, no doubt in part since both are based on mutations in the WT1 gene.[PMID 10571943]

See also OMIM 607102.0025

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

OMIM607102
DescFRASIER SYNDROME
Variant0025
Relatedalso
Neighborrs28941778
Distance12
Neighborrs28941777
Distance27


ClinVar
Risk rs28941779(C;C)
Alt rs28941779(C;C)
Reference rs28941779(T;T)
Significance Pathogenic
Disease Frasier syndrome
Variation info
Gene WT1
CLNDBN Frasier syndrome
Reversed 1
HGVS NC_000011.9:g.32413572A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003679.2,