Variant (rsID / SNP)

rs16838842

rs16838842 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FASTKD2. Location: chromosome 2, position 207,630,360. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FASTKD2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:207630360
Cytoband: 2q33.3
HGVS: NM_001136193.2(FASTKD2):c.-162C>T
Allele change: Silent

Associated conditions / phenotypes

Cytochrome-c oxidase deficiency disease

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.