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Details for SLC26A10:c.1206G>A, p.Trp402Ter

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
58017860	57624077

VARIANT EFFECT

nonsense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1206G>A

PROTEIN CHANGE

p.Trp402Ter

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0008	0.0029	0.0	0.001	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003986	0.0009227	0.002667	0.00408	0.0	0.00268	0.006092	0.005062	0.002356

ESP
AA	EA
0.001362	0.005581

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	8.301635	Disease causing

DBSNP ID

1 combination linked to SLC26A10:c.1206G>A, p.Trp402Ter

1 disease linked to SLC26A10:c.1206G>A, p.Trp402Ter

Amyotrophic lateral sclerosis

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