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Details for SQSTM1:c.911C>T, p.Thr304Met

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
179260188	179833188

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.911C>T

PROTEIN CHANGE

p.Thr304Met

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
4.417e-05	6.234e-05	0.0	0.0	0.0003283	0.0	2.672e-05	0.0	3.276e-05

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	-0.025705	Disease causing

DBSNP ID

1 combination linked to SQSTM1:c.911C>T, p.Thr304Met

1 disease linked to SQSTM1:c.911C>T, p.Thr304Met

Amyotrophic lateral sclerosis

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