Details for TIA1:c.1070A>G, p.Asn357Ser

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7043994270212810
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TIA1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_022173.2
CDNA CHANGE c.1070A>G
PROTEIN CHANGE p.Asn357Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00160.00.00.00.0060.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0066540.001230.0015610.011015.437e-050.0053120.0091810.0061910.009472

ESP
AAEA
0.00090790.009884
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.141752Polymorphism
DBSNP ID rs116621885
2 combinations linked to TIA1:c.1070A>G, p.Asn357Ser OLI022; OLI1732
1 disease linked to TIA1:c.1070A>G, p.Asn357Ser Distal myopathy
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