NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) AND Ehlers-Danlos syndrome, musculocontractural type
| Significance: | Pathogenic |
|---|---|
| ClinVar: | RCV000002429 |
Variant: NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) |
|
| Type: | Variant |
Allele: NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) 17378 |
|
| Gene: | CHST14 |
| Type: | single nucleotide variant |
| Location: |
Chr15: 40764290
- assembly
GRCh37 Chr15: 40472091 - assembly GRCh38 |
| References: | dbSNP:
121908258 OMIM: 608429.0004 UniProtKB/Swiss-Prot: VAR_063757 UniProtKB: Q8NCH0#VAR_063757 |
Condition |
|
| Disease: | Ehlers-Danlos syndrome, musculocontractural type |