Variant (rsID / SNP)

rs587776498

rs587776498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ECHS1. Location: chromosome 10, position 135,186,833. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ECHS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:135186833
Cytoband: 10q26.3
HGVS: NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)
Allele change: Missense_A2V

Associated conditions / phenotypes

Leigh syndrome|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.