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Variant (rsID / SNP)

rs143712760

PNPT1

rs143712760 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPT1. Location: chromosome 2, position 55,874,565. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PNPT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:55874565
Cytoband
2p16.1
HGVS
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
Allele change
Missense_A507S

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 13|Neurodevelopmental disorder|Combined oxidative phosphorylation defect type 13|Autosomal recessive nonsyndromic hearing loss 70|Inborn genetic diseases

Public references

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