Variant (rsID / SNP)

rs1130183

rs1130183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ10. Location: chromosome 1, position 160,011,512. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KCNJ10Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:160011512
Cytoband: 1q23.2
HGVS: NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys)
Allele change: Missense_R271C

Associated conditions / phenotypes

EAST syndrome|History of neurodevelopmental disorder|Autosomal recessive nonsyndromic hearing loss 4

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.