Variant (rsID / SNP)

rs147937174

rs147937174 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYBB3. Location: chromosome 22, position 25,603,127. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CRYBB3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:25603127
Cytoband: 22q11.23
HGVS: NM_004076.5(CRYBB3):c.584G>A (p.Arg195His)
Allele change: Missense_R195H

Associated conditions / phenotypes

Cataract 22 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.