Variant (rsID / SNP)

rs34162630

rs34162630 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1F. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CACNA1FBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln)
Allele change: Missense_R519Q

Associated conditions / phenotypes

Congenital stationary night blindness 2A

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.