Variant (rsID / SNP)

rs141159097

rs141159097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1F. Clinical significance in the table: Likely benign.

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Reference-table entries

CACNA1FLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)
Allele change: Missense_N746T

Associated conditions / phenotypes

Cone-rod dystrophy|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.