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Variant (rsID / SNP)

rs141010716

CACNA1F

rs141010716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1F. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CACNA1FConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Cytoband
Xp11.23
HGVS
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
Allele change
Missense_V635I

Associated conditions / phenotypes

Congenital stationary night blindness 2A

Public references

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