Variant (rsID / SNP)

rs121912973

rs121912973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYAA. Location: chromosome 21, position 44,592,215. Clinical significance in the table: Pathogenic.

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Reference-table entries

CRYAAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:44592215
Cytoband: 21q22.3
HGVS: NM_000394.4(CRYAA):c.347G>A (p.Arg116His)
Allele change: Missense_R116H

Associated conditions / phenotypes

Cataract 9, multiple types, with microcornea|Cataract 9 multiple types

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.