Variant (rsID / SNP)

rs375288190

rs375288190 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCNKB. Location: chromosome 1, position 16,382,989. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CLCNKBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:16382989
Cytoband: 1p36.13
HGVS: NM_000085.5(CLCNKB):c.2002G>C (p.Val668Leu)
Allele change: Missense_V668L

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.