Details for GNA14:c.989_990delCA, p.Thr330ArgfsTer67

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
8003897277424056
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_corrected
GENE GNA14
REFERENCE ALLELE CTG
ALTERNATE ALLELE C
TRANSCRIPT NM_004297.4
CDNA CHANGE c.989_990delCA
PROTEIN CHANGE p.Thr330ArgfsTer67
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8.013e-060.00012350.00.00.00.00.00.00.0

ESP
AAEA
0.0075050.003635
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.62026Disease causing
DBSNP ID rs750424668
1 combination linked to GNA14:c.989_990delCA, p.Thr330ArgfsTer67 OLI403
2 diseases linked to GNA14:c.989_990delCA, p.Thr330ArgfsTer67 Parkinson disease; Benign essential blepharospasm
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