Details for ERBB4:c.3446C>A, p.Gly1149Val

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
212248773211384048
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ERBB4
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.3446C>A
PROTEIN CHANGE p.Gly1149Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.475103Disease causing
DBSNP ID NA
1 combination linked to ERBB4:c.3446C>A, p.Gly1149Val OLI1588
1 disease linked to ERBB4:c.3446C>A, p.Gly1149Val Amyotrophic lateral sclerosis
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