Variant (rsID / SNP)

rs121908332

rs121908332 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNK9. Location: chromosome 8, position 140,630,920. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNK9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:140630920
Cytoband: 8q24.3
HGVS: NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg)
Allele change: Silent

Associated conditions / phenotypes

Birk-Barel syndrome

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.