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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:
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