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Details for EPHB3:c.2234G>T, p.Gly745Val

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
184298251	184580463

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2234G>T

PROTEIN CHANGE

p.Gly745Val

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	4.619e-05	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.916802	None

DBSNP ID

1 combination linked to EPHB3:c.2234G>T, p.Gly745Val

1 disease linked to EPHB3:c.2234G>T, p.Gly745Val

Amyotrophic lateral sclerosis

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