Variant (rsID / SNP)

rs121917858

rs121917858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KERA. Location: chromosome 12, position 91,449,319. Clinical significance in the table: Pathogenic.

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Reference-table entries

KERAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:91449319
Cytoband: 12q21.33
HGVS: NM_007035.4(KERA):c.740A>G (p.Asn247Ser)
Allele change: Missense_N247S

Associated conditions / phenotypes

Cornea plana 2

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.