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Variant (rsID / SNP)

rs142228240

KCNJ10

rs142228240 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ10. Location: chromosome 1, position 160,011,708. 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
1:160011708
Cytoband
1q23.2
HGVS
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=)
Allele change
Synonymous_K205K

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 4|EAST syndrome

Public references

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