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Details for SLC26A10:c.1247T>G, p.Leu416Arg

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
58018668	57624885

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1247T>G

PROTEIN CHANGE

p.Leu416Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0036	0.0053	0.0058	0.0	0.003	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005218	0.004306	0.005205	0.004864	0.0	0.002679	0.007297	0.007336	0.002613

ESP
AA	EA
0.004085	0.00686

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Unknown	3.834767	Polymorphism

DBSNP ID

1 combination linked to SLC26A10:c.1247T>G, p.Leu416Arg

1 disease linked to SLC26A10:c.1247T>G, p.Leu416Arg

Amyotrophic lateral sclerosis

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