STRs database » CACNA1A locus
Gene CACNA1A
Location Coding in 19p13
Reference region chr19:13207858-13207897 (hg38)
chr19:13318672-13318711 (hg19)
Repeat unit CAG
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

The normal length of repeats for CACNA1A gene is usually between 4 and 16 repeats (Zhuchenko et al., 1997), but a healthy individual carrying 18 repeats in the allele have been found as well (Riess, 1997). An affected individual being homozygous for an intermediate allele of 19 repeats has been described in Italian family (Mariotti et al., 2001). The pathogenic range starts from 21 repeats of CAG which is known to cause spinocerebellar ataxia type 6 (Riess, 1997).

→ View STRipy's population-wide repeat data for CACNA1A locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Spinocerebellar ataxia 6 (SCA6) Adult Autosomal dominant 4-18 19 ≥21