Details for RET:c.1465G>A, p.Asp489Asn

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
4360685643111408
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE RET
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_020975.4
CDNA CHANGE c.1465G>A
PROTEIN CHANGE p.Asp489Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00380.00.00.01880.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0022750.00012340.0008680.00.02840.05.291e-050.0013079.799e-05

ESP
AAEA
0.0002270.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.489342Polymorphism
DBSNP ID rs9282834
1 combination linked to RET:c.1465G>A, p.Asp489Asn OLI347
1 disease linked to RET:c.1465G>A, p.Asp489Asn 46,XY disorder of sex development
Found any issues with the data on this page? Report this entry.