This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for SETX:c.7640T>C, p.Ile2547Thr

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135140020	132264633

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.7640T>C

PROTEIN CHANGE

p.Ile2547Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0026	0.0	0.0086	0.0	0.007	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003909	0.001046	0.006302	0.001091	0.0	0.0003234	0.005722	0.007818	0.001013

ESP
AA	EA
0.0009079	0.007674

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.174818	Polymorphism

DBSNP ID

5 combinations linked to SETX:c.7640T>C, p.Ile2547Thr

OLI270; OLI273; OLI276; OLI282; OLI661

1 disease linked to SETX:c.7640T>C, p.Ile2547Thr

Amyotrophic lateral sclerosis

Found any issues with the data on this page? Report this entry.