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rs397514705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5.1 Possible: Phelan-McDermid syndrome (autism-like?)
Make rs397514705(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50678666
GeneSHANK3
is asnp
is mentioned by
dbSNPrs397514705
ebirs397514705
HLIrs397514705
Exacrs397514705
Varsomers397514705
Maprs397514705
PheGenIrs397514705
hapmaprs397514705
1000 genomesrs397514705
hgdprs397514705
ensemblrs397514705
gopubmedrs397514705
geneviewrs397514705
scholarrs397514705
googlers397514705
pharmgkbrs397514705
gwascentralrs397514705
openSNPrs397514705
23andMers397514705
23andMe allrs397514705
SNP Nexus

SNPshotrs397514705
SNPdbers397514705
MSV3drs397514705
GWAS Ctlgrs397514705
Max Magnitude5.1

rs397514705, also known as c.421C>G, p.Pro141Ala and P141A, represents a rare variant in the SHANK3 gene on chromosome 22.

Some variants in the SHANK3 gene have been associated with autism. For rs397514705(G), a 2013 publication reports a 25-year-old African-American woman with developmental delay, seizures, mild facial dysmorphism, and an autism-like disorder consistent with Phelan-McDermid syndrome.[PMID 22892527OA-icon.png]

See also OMIM 606230.0006

ClinVar
Risk rs397514705(G;G)
Alt rs397514705(G;G)
Reference rs397514705(C;C)
Significance Pathogenic
Disease 22q13.3 deletion syndrome
Variation info
Gene SHANK3
CLNDBN 22q13.3 deletion syndrome
Reversed 0
HGVS NC_000022.10:g.51117094C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000043655.3,