Details for TIA1:c.671T>C, p.Ile224Thr

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7044161670214484
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TIA1
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_001351514
CDNA CHANGE c.671T>C
PROTEIN CHANGE p.Ile224Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.449836Disease causing
DBSNP ID NA
1 combination linked to TIA1:c.671T>C, p.Ile224Thr OLI947
1 disease linked to TIA1:c.671T>C, p.Ile224Thr Amyotrophic lateral sclerosis
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