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CACNA1A gene CAG repeats in blood/tissue
Clinical significance:
- the poly-Gln region of CACNA1A is polymorphic: 6-17 repeats in the normal population; expanded to ~21-30 repeats in spinocerebellar ataxia type-6; repeat expansion also reported in episodic ataxia type 2
Related
voltage-dependent Ca+2 channel alpha-1A (voltage-dependent Ca+2 channel-alpha 1 isoform 4, L type, CACNA1A, CACNL1A4, CACH4, CACN3)
General
CACNA1A gene mutation; voltage-dependent Ca+2 channel alpha 1A gene mutation
trinucleotide repeat testing
References
Loinc