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Variant (rsID / SNP)

rs144484457

ATPAF2

rs144484457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATPAF2. Location: chromosome 17, position 17,929,709. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATPAF2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:17929709
Cytoband
17p11.2
HGVS
NM_145691.4(ATPAF2):c.346T>C (p.Leu116=)
Allele change
Synonymous_L116L

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.