rs72554632
From SNPedia
| Orientation | plus |
| Stabilized | 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 |
| rs72554632 | |
| pharmgkb | rs72554632 |
| gwascentral | rs72554632 |
| openSNP | rs72554632 |
| 23andMe | rs72554632 |
| SNPshot | rs72554632 |
| SNPdbe | rs72554632 |
| MSV3d | rs72554632 |
| GWAS Ctlg | rs72554632 |
| Max Magnitude | 5 |
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, |
