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Variant (rsID / SNP)

rs138943405

KCNJ10

rs138943405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ10. Location: chromosome 1, position 160,012,247. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNJ10Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:160012247
Cytoband
1q23.2
HGVS
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)
Allele change
Nonsense_R26X

Associated conditions / phenotypes

EAST syndrome|KCNJ10-Related Disorders|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|EAST syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.