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rs796065306

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 8 Dyskinesia, familial, with facial myokymia
(G;G) 0 common in clinvar


Make rs796065306(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position123319754
GeneADCY5
is asnp
is mentioned by
dbSNPrs796065306
ebirs796065306
HLIrs796065306
Exacrs796065306
Varsomers796065306
Maprs796065306
PheGenIrs796065306
hapmaprs796065306
1000 genomesrs796065306
hgdprs796065306
ensemblrs796065306
gopubmedrs796065306
geneviewrs796065306
scholarrs796065306
googlers796065306
pharmgkbrs796065306
gwascentralrs796065306
openSNPrs796065306
23andMers796065306
23andMe allrs796065306
SNP Nexus

SNPshotrs796065306
SNPdbers796065306
MSV3drs796065306
GWAS Ctlgrs796065306
Max Magnitude8
rs796065306, also known as c.2176G>A, p.Ala726Thr and A726T, represents a mutation in the ADCY5 gene on chromosome 3.

The very rare rs796065306(A) allele is reported to be an autosomally dominant mutation leading to ADCY5-related dyskinesia disorder. See the discussion at ADCY5.

See also OMIM 600293.0001


ClinVar
Risk rs796065306(A;A)
Alt rs796065306(A;A)
Reference rs796065306(G;G)
Significance Pathogenic
Disease Dyskinesia
Variation info
Gene ADCY5
CLNDBN Dyskinesia, familial, with facial myokymia
Reversed 1
HGVS NC_000003.11:g.123038601C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030679.2,