RS114402678 CPA6

Health Risk Chr 8:67483796 snv missense variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Febrile seizures
familial
11
Intellectual disability
Familial temporal lobe epilepsy 5
CPA6-related disorder
Febrile seizures
familial
11
Intellectual disability
Familial temporal lobe epilepsy 5
CPA6-related disorder
Population Frequencies
gnomAD ALL
100%
1kG AFR
1.3%
1kG ALL
0.4%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in CPA6
rs139145929 rs183899632 rs201265791 rs752233230 rs143107403 rs138279913 rs139178030 rs147046973 rs372964579 rs773734224
Ask Dr. Hemsworth about this variant