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Details for KIAA1755:c.676C>T, p.Gln226Ter

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
36869857	38241455

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.676C>T

PROTEIN CHANGE

p.Gln226Ter

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
3.977e-06	0.0	0.0	0.0	0.0	4.621e-05	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.859363	Disease causing

DBSNP ID

1 combination linked to KIAA1755:c.676C>T, p.Gln226Ter

1 disease linked to KIAA1755:c.676C>T, p.Gln226Ter

Amyotrophic lateral sclerosis

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