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Details for ATP7B:c.2333G>T, p.Arg778Leu

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
52532469	51958333

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2333G>T

PROTEIN CHANGE

p.Arg778Leu

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
0.0001363	0.0	0.0	0.0	0.001891	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	4.008851	Disease causing

DBSNP ID

1 combination linked to ATP7B:c.2333G>T, p.Arg778Leu

2 diseases linked to ATP7B:c.2333G>T, p.Arg778Leu

Duchenne muscular dystrophy; Wilson disease

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