Variant (rsID / SNP)

rs587777839

rs587777839 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PET100, XAB2. Location: chromosome 19, position 7,694,722. Clinical significance in the table: Pathogenic.

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Reference-table entries

PET100Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:7694722
Cytoband: 19p13.2
HGVS: NM_001171155.2(PET100):c.3G>C (p.Met1Ile)
Allele change: Missense_M1I

Associated conditions / phenotypes

Cytochrome-c oxidase deficiency disease|Mitochondrial complex 4 deficiency, nuclear type 12

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.