Variant (rsID / SNP)

rs119458969

rs119458969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFA. Location: chromosome 15, position 76,578,804. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ETFALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:76578804
Cytoband: 15q24.2
HGVS: NM_000126.4(ETFA):c.470T>G (p.Val157Gly)
Allele change: Missense_V108G

Associated conditions / phenotypes

Glutaric acidemia IIa|Multiple acyl-CoA dehydrogenase 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.