Details for FIG4:c.2080A>G, p.Met694Val

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
110107636109786433
VARIANT EFFECT unknown
ANNOTATION FLAG automatically_attributed
GENE FIG4
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_014845.5
CDNA CHANGE c.2080A>G
PROTEIN CHANGE p.Met694Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.569e-050.02.891e-050.00.00.08.797e-050.09.799e-05

ESP
AAEA
0.00.0003488
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.098301Disease causing
DBSNP ID rs143531641
1 combination linked to FIG4:c.2080A>G, p.Met694Val OLI283
1 disease linked to FIG4:c.2080A>G, p.Met694Val Amyotrophic lateral sclerosis
Found any issues with the data on this page? Report this entry.