RS114851656 CACNA1C

Health Risk Chr 12:2633682 snv missense variant
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Associated Conditions
Brugada syndrome 3
Neurodevelopmental disorder with hypotonia
language delay
and skeletal defects with or without seizures
Timothy syndrome
Long QT syndrome 8
Brugada syndrome 3
Neurodevelopmental disorder with hypotonia
language delay
and skeletal defects with or without seizures
Timothy syndrome
Long QT syndrome 8
Population Frequencies
gnomAD ALL
100%
1kG AFR
99.2%
1kG ALL
99.8%
1kG AMR
99.9%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in CACNA1C
rs79891110 rs80315385 rs121912775 rs121912776 rs193922616 rs199473391 rs199473660 rs199473392 rs200330469 rs398123517
Ask Dr. Hemsworth about this variant