Details for PDGFRA:c.236G>A, p.Gly79Asp

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
5512744854261281
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PDGFRA
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001347829.1
CDNA CHANGE c.236G>A
PROTEIN CHANGE p.Gly79Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0040.00080.00290.00.01290.0041

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0088830.0016610.0022840.01260.00016310.012750.013620.010590.003528

ESP
AAEA
0.0036310.01372
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.405431Polymorphism
DBSNP ID rs36035373
1 combination linked to PDGFRA:c.236G>A, p.Gly79Asp OLI720
1 disease linked to PDGFRA:c.236G>A, p.Gly79Asp Isolated anencephaly
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