Details for FAM170A:c.782A>G, p.His261Arg

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
118970225119634530
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE FAM170A
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_182761.3
CDNA CHANGE c.782A>G
PROTEIN CHANGE p.His261Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00028756.461e-050.00040580.00.00016690.00013940.00043280.00016573.274e-05

ESP
AAEA
0.00024180.0004743
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.086604Polymorphism
DBSNP ID rs199949750
1 combination linked to FAM170A:c.782A>G, p.His261Arg OLI328
1 disease linked to FAM170A:c.782A>G, p.His261Arg Amyotrophic lateral sclerosis

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