Details for GDNF:c.277C>T, p.Arg93Trp

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
3781611237816010
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GDNF
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000514.3
CDNA CHANGE c.277C>T
PROTEIN CHANGE p.Arg93Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00.00140.00.0040.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0022520.00055440.0021130.0028780.00.0001850.0038250.0016310.000196

ESP
AAEA
0.0015890.003256
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.987252Polymorphism
DBSNP ID rs36119840
2 combinations linked to GDNF:c.277C>T, p.Arg93Trp OLI021; OLI575
2 diseases linked to GDNF:c.277C>T, p.Arg93Trp Disorder of sex development; Hirschsprung disease
Found any issues with the data on this page? Report this entry.