Variant (rsID / SNP)

rs3762568

rs3762568 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FASTKD2. Location: chromosome 2, position 207,631,461. Clinical significance in the table: Benign.

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Reference-table entries

FASTKD2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:207631461
Cytoband: 2q33.3
HGVS: NM_001136193.2(FASTKD2):c.44G>A (p.Ser15Asn)
Allele change: Missense_S15N

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.