Variant (rsID / SNP)

rs786205550

rs786205550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ13. Location: chromosome 2, position 233,635,714. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KCNJ13Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:233635714
Cytoband: 2q37.1
HGVS: NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)
Allele change: Silent

Associated conditions / phenotypes

Leber congenital amaurosis 16

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.