Genomic variant #0000059608

Individual ID 00033142
Chromosome X
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.49082509G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID CACNA1F_000009
Variant remarks predicted to affect function, but insufficient evidence for definite conclusion, disease-related variants in other gene; non-affected carrier father, not segregating with disease in other family
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Kornelia Neveling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CACNA1F NM_005183.2 +?/. 13 c.1546C>G - r.(?) p.(Arg516Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033210 DNA SEQ;SEQ-NG-S - - CACNA1F, PDE6B 3 Kornelia Neveling