rs72554632

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4	Carrier for Brunner's Syndrome
(T;T)	5	possible mental retardation

Reference

GRCh38 38.1/141

Chromosome

X

Position

43731784

Gene

MAOA

is a	snp
is	mentioned by
dbSNP	rs72554632
dbSNP (classic)	rs72554632
ClinGen	rs72554632
ebi	rs72554632
HLI	rs72554632
Exac	rs72554632
Gnomad	rs72554632
Varsome	rs72554632
LitVar	rs72554632
Map	rs72554632
PheGenI	rs72554632
Biobank	rs72554632
1000 genomes	rs72554632
hgdp	rs72554632
ensembl	rs72554632
geneview	rs72554632
scholar	rs72554632
google	rs72554632
pharmgkb	rs72554632
gwascentral	rs72554632
openSNP	rs72554632
23andMe	rs72554632
SNPshot	rs72554632
SNPdbe	rs72554632
MSV3d	rs72554632
GWAS Ctlg	rs72554632

Max Magnitude

5

OMIM	309850
Desc
Variant	0001
Related	also

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,