Variant (rsID / SNP)

rs1049951

rs1049951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ECHS1. Location: chromosome 10, position 135,184,126. Clinical significance in the table: Benign.

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Reference-table entries

ECHS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:135184126
Cytoband: 10q26.3
HGVS: NM_004092.4(ECHS1):c.224C>T (p.Thr75Ile)
Allele change: Missense_T75I

Associated conditions / phenotypes

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.