rs137854888
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs137854888(C;C) |
| Make rs137854888(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 180987023 |
| Gene | DNAJC19 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854888 |
| dbSNP (classic) | rs137854888 |
| ClinGen | rs137854888 |
| ebi | rs137854888 |
| HLI | rs137854888 |
| Exac | rs137854888 |
| Gnomad | rs137854888 |
| Varsome | rs137854888 |
| LitVar | rs137854888 |
| Map | rs137854888 |
| PheGenI | rs137854888 |
| Biobank | rs137854888 |
| 1000 genomes | rs137854888 |
| hgdp | rs137854888 |
| ensembl | rs137854888 |
| geneview | rs137854888 |
| scholar | rs137854888 |
| rs137854888 | |
| pharmgkb | rs137854888 |
| gwascentral | rs137854888 |
| openSNP | rs137854888 |
| 23andMe | rs137854888 |
| SNPshot | rs137854888 |
| SNPdbe | rs137854888 |
| MSV3d | rs137854888 |
| GWAS Ctlg | rs137854888 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854888(C;C) |
| Alt | rs137854888(C;C) |
| Reference | Rs137854888(G;G) |
| Significance | Pathogenic |
| Disease | 3-methylglutaconic aciduria type V |
| Variation | info |
| Gene | DNAJC19 |
| CLNDBN | 3-methylglutaconic aciduria type V |
| Reversed | 1 |
| HGVS | NC_000003.11:g.180704811C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002028.3, |
[PMID 16055927
] Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
