Variant (rsID / SNP)

rs119458971

rs119458971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFA. Location: chromosome 15, position 76,584,777. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ETFAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:76584777
Cytoband: 15q24.2
HGVS: NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)
Allele change: Missense_G67R

Associated conditions / phenotypes

Glutaric acidemia IIa

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.