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Variant (rsID / SNP)

rs28931604

CRYGC

rs28931604 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYGC. Location: chromosome 2, position 208,992,950. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CRYGCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:208992950
Cytoband
2q33.3
HGVS
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp)
Allele change
Silent

Associated conditions / phenotypes

Cataract 2, multiple types|Nuclear pulverulent cataract

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.