Details for NEFH:c.1138G>A, p.Ala380Thr

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
2988176629485777
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NEFH
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_021076.3
CDNA CHANGE c.1138G>A
PROTEIN CHANGE p.Ala380Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.0030.00.0030.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00045740.00030768.674e-050.00.0053280.02.638e-050.00032590.0001307

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.145437Disease causing
DBSNP ID rs201416955
1 combination linked to NEFH:c.1138G>A, p.Ala380Thr OLI436
1 disease linked to NEFH:c.1138G>A, p.Ala380Thr Amyotrophic lateral sclerosis
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