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Details for ATP7B:c.4301C>T, p.Thr1434Met

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
52508989	51934853

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4301C>T

PROTEIN CHANGE

p.Thr1434Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0024	0.0076	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001968	0.005284	0.003678	0.009039	0.0	0.001347	0.001219	0.00363	6.536e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.26259	Polymorphism

DBSNP ID

1 combination linked to ATP7B:c.4301C>T, p.Thr1434Met

1 disease linked to ATP7B:c.4301C>T, p.Thr1434Met

Syndrome with 46,XY disorder of sex development

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