Details for ITM2B:c.751A>G, p.Ile251Val

CHROMOSOME 13
GENOMIC COORDINATES
hg19hg38
4883531048261174
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ITM2B
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_021999.4
CDNA CHANGE c.751A>G
PROTEIN CHANGE p.Ile251Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00013150.02.894e-050.0018860.00.00.00010580.03.269e-05

ESP
AAEA
0.0002270.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.55797Polymorphism
DBSNP ID rs139394220
1 combination linked to ITM2B:c.751A>G, p.Ile251Val OLI605
2 diseases linked to ITM2B:c.751A>G, p.Ile251Val Frontotemporal dementia; Amyotrophic lateral sclerosis
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