Variant (rsID / SNP)

rs34607655

rs34607655 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATPAF2. Location: chromosome 17, position 17,924,447. Clinical significance in the table: Benign.

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Reference-table entries

ATPAF2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:17924447
Cytoband: 17p11.2
HGVS: NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly)
Allele change: Missense_E241G

Associated conditions / phenotypes

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

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.