{{Rsnum
|rsid=33910054
|Gene=CACNA1F
|Chromosome=X
|position=49205282
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.09129
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CACNA1F
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 6.6 | 1.9 | 91.5
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 0.0 | 0.0
| YRI | 0.7 | 0.7 | 98.6
| ASW | 0.0 | 5.3 | 94.7
| CHB | 0.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 1.9 | 1.3 | 96.8
| TSI | 3.1 | 2.0 | 94.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=33910054
|allele=T
|frequency=
|uid=1103673031432
|type=homozygous_SNP
|hugo=CACNA1F
|ensembl gene=ENSG00000102001
|ensembl transcript=ENST00000323022
|sift=TOLERATED
|disease=Defects in CACNA1F are the cause of incomplete X-linked congenital stationary night blindness type 2 (CSNB2) (MIM:300071). CSNB2 is a nonprogressive retinal disorder characterized by decreased visual acuity and loss of night vision.
}}

{{ClinVar
|rsid=33910054
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=49061742
|CHROM=X
|GMAF=0.0910187
|dbSNPBuildID=126
|SSR=0
|SAO=0
|VP=0x050160000000150517100100
|GENEINFO=CACNA1F:778
|GENE_NAME=CACNA1F
|GENE_ID=778
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.49061742C>T
|CLNSIG=1
|Tags=RV;PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.9087; 0.09129
|COMMON=1
|CLNACC=RCV000086958.1
|CLNDBN=not provided
|Disease=not provided
}}

{{GET Evidence
|gene=CACNA1F
|aa_change=Arg1930His
|aa_change_short=R1930H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs33910054
|overall_frequency_n=525
|overall_frequency_d=8761
|overall_frequency=0.0599247
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=9
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=4
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}