Details for CACNA1C:

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
25668332457667
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE CACNA1C
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.034819Disease causing
DBSNP ID NA
1 combination linked to CACNA1C: OLI480
1 disease linked to CACNA1C: Rare pervasive developmental disorder

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