Variant (rsID / SNP)

rs143663847

rs143663847 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCNKB. Location: chromosome 1, position 16,382,201. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CLCNKBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:16382201
Cytoband: 1p36.13
HGVS: NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr)
Allele change: Missense_C626Y

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant

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.