rs786204454
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| ({{{allele1}}};{{{allele2}}}) | ||
| (-;-) | 6 | Krabbe disease (likely) |
| (-;T) | 3 | carrier of one Krabbe disease allele |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 14 |
| Position | 87965583 |
| Gene | GALC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786204454 |
| dbSNP (classic) | rs786204454 |
| ClinGen | rs786204454 |
| ebi | rs786204454 |
| HLI | rs786204454 |
| Exac | rs786204454 |
| Gnomad | rs786204454 |
| Varsome | rs786204454 |
| LitVar | rs786204454 |
| Map | rs786204454 |
| PheGenI | rs786204454 |
| Biobank | rs786204454 |
| 1000 genomes | rs786204454 |
| hgdp | rs786204454 |
| ensembl | rs786204454 |
| geneview | rs786204454 |
| scholar | rs786204454 |
| rs786204454 | |
| pharmgkb | rs786204454 |
| gwascentral | rs786204454 |
| openSNP | rs786204454 |
| 23andMe | rs786204454 |
| SNPshot | rs786204454 |
| SNPdbe | rs786204454 |
| MSV3d | rs786204454 |
| GWAS Ctlg | rs786204454 |
| Max Magnitude | 6 |
aka c.955delT, p.Tyr319Metfs
Identified in ClinVar as pathogenic for Krabbe disease (when inherited recessively or as a compound heterozygote)
| ClinVar | |
|---|---|
| Risk | Rs786204454(-;-) |
| Alt | Rs786204454(-;-) |
| Reference | Rs786204454(T;T) |
| Significance | Pathogenic |
| Disease | Galactosylceramide beta-galactosidase deficiency not provided |
| Variation | info |
| Gene | GALC |
| CLNDBN | Galactosylceramide beta-galactosidase deficiency not provided |
| Reversed | 1 |
| HGVS | NC_000014.8:g.88431927delA |
| CLNSRC | |
| CLNACC | RCV000169089.1, RCV000255073.2, |
