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Details for DCTN1:c.3746C>T, p.Thr1249Ile

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
74588717	74361590

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3746C>T

PROTEIN CHANGE

p.Thr1249Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0008	0.0043	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002884	0.0006767	0.0009251	0.001587	0.0	0.0005083	0.00496	0.001793	0.002613

ESP
AA	EA
0.0009079	0.004535

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.499074	Polymorphism

DBSNP ID

3 combinations linked to DCTN1:c.3746C>T, p.Thr1249Ile

OLI280; OLI281; OLI663

1 disease linked to DCTN1:c.3746C>T, p.Thr1249Ile

Amyotrophic lateral sclerosis

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