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rs797044936

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
(-;G) 5.1 Possible: Phelan-McDermid syndrome (autism-like)
Make rs797044936(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position50721512
GeneSHANK3
is asnp
is mentioned by
dbSNPrs797044936
ebirs797044936
HLIrs797044936
Exacrs797044936
Varsomers797044936
Maprs797044936
PheGenIrs797044936
hapmaprs797044936
1000 genomesrs797044936
hgdprs797044936
ensemblrs797044936
gopubmedrs797044936
geneviewrs797044936
scholarrs797044936
googlers797044936
pharmgkbrs797044936
gwascentralrs797044936
openSNPrs797044936
23andMers797044936
23andMe allrs797044936
SNP Nexus

SNPshotrs797044936
SNPdbers797044936
MSV3drs797044936
GWAS Ctlgrs797044936
Max Magnitude5.1

rs797044936, also known as c.3679dupG or A1227Gfs*69, represents a rare mutation in the SHANK3 gene on chromosome 22.

The minor allele of this SNP has been reported as associated with either autism or the closely related Phelan-McDermid syndrome.[PMID 25188300OA-icon.png]

ClinVar
Risk rs797044936(G;G)
Alt rs797044936(G;G)
Reference rs797044936(;)
Significance Pathogenic
Disease 22q13.3 deletion syndrome Inborn genetic diseases
Variation info
Gene SHANK3
CLNDBN 22q13.3 deletion syndrome Inborn genetic diseases
Reversed 0
HGVS NC_000022.10:g.51159940dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004730.4, RCV000190779.1,