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Variant (rsID / SNP)

rs144499152

FASTKD2

rs144499152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FASTKD2. Location: chromosome 2, position 207,635,935. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FASTKD2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:207635935
Cytoband
2q33.3
HGVS
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr)
Allele change
Missense_I304T

Associated conditions / phenotypes

Cytochrome-c oxidase deficiency disease

Public references

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