Details for PDE1B:c.47C>G, p.Ala16Gly

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
5496337754569593
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PDE1B
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_001288768.1
CDNA CHANGE c.47C>G
PROTEIN CHANGE p.Ala16Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.00.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.181e-050.00.00.00.00.00.00.00.0002613

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.604434Polymorphism
DBSNP ID rs571112837
1 combination linked to PDE1B:c.47C>G, p.Ala16Gly OLI646
1 disease linked to PDE1B:c.47C>G, p.Ala16Gly Schizophrenia
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