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Details for FIG4:c.421C>T, p.Arg141Trp

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
110048443	109727240

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.421C>T

PROTEIN CHANGE

p.Arg141Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.377e-05	0.000123	5.788e-05	0.0	0.0	0.0	5.279e-05	0.000163	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.358521	Polymorphism

DBSNP ID

1 combination linked to FIG4:c.421C>T, p.Arg141Trp

1 disease linked to FIG4:c.421C>T, p.Arg141Trp

Amyotrophic lateral sclerosis

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