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rs72554632

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Carrier for Brunner's Syndrome
(T;T) 5 possible mental retardation
ReferenceGRCh38 38.1/141
ChromosomeX
Position43731784
GeneMAOA
is asnp
is mentioned by
dbSNPrs72554632
ebirs72554632
HLIrs72554632
Exacrs72554632
Varsomers72554632
Maprs72554632
PheGenIrs72554632
hapmaprs72554632
1000 genomesrs72554632
hgdprs72554632
ensemblrs72554632
gopubmedrs72554632
geneviewrs72554632
scholarrs72554632
googlers72554632
pharmgkbrs72554632
gwascentralrs72554632
openSNPrs72554632
23andMers72554632
23andMe allrs72554632
SNP Nexus

SNPshotrs72554632
SNPdbers72554632
MSV3drs72554632
GWAS Ctlgrs72554632
Max Magnitude5
OMIM309850
Desc
Variant0001
Relatedalso

Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation resulting from MAOA deficiency due to the premature stop codon detected by rs72554632.

dbSNP reports rs72554632 (C/T; CAT->TAG; QLN->STOP(AMBER)) as probably pathogenic, NP_000231.1 Gln296X.

ClinVar
Risk rs72554632(T;T)
Alt rs72554632(T;T)
Reference rs72554632(C;C)
Significance Pathogenic
Disease Monoamine oxidase A deficiency
Variation info
Gene MAOA
CLNDBN Monoamine oxidase A deficiency
Reversed 0
HGVS NC_000023.10:g.43591031C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010645.3,