Details for TPP1:c.14C>A, p.Ala5Asp

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
66406186619387
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE TPP1
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_000391.4
CDNA CHANGE c.14C>A
PROTEIN CHANGE p.Ala5Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0011496.152e-050.00011560.00069440.00.0025410.0018460.001140.0001633

ESP
AAEA
0.00022720.0005819
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.941029Polymorphism
DBSNP ID rs138976576
1 combination linked to TPP1:c.14C>A, p.Ala5Asp OLI329
1 disease linked to TPP1:c.14C>A, p.Ala5Asp Amyotrophic lateral sclerosis
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