Details for GPT2:p.Asp422Tyr

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
4695835246924440
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GPT2
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Asp422Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00023460.05.782e-050.0025790.09.239e-050.00022850.00048860.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.682914Polymorphism
DBSNP ID NA
1 combination linked to GPT2:p.Asp422Tyr OLI1307
1 disease linked to GPT2:p.Asp422Tyr Juvenile amyotrophic lateral sclerosis
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