Variant (rsID / SNP)

rs371260517

rs371260517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFDH. Location: chromosome 4, position 159,616,697. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ETFDHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:159616697
Cytoband: 4q32.1
HGVS: NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)
Allele change: Missense_A198T

Associated conditions / phenotypes

Glutaric acidemia type 2C

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.