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Details for ATP7B:c.3207C>A, p.His1069Gln

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
52518281	51944145

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3207C>A

PROTEIN CHANGE

p.His1069Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0009222	0.0	0.0004636	0.005365	0.0	0.0004178	0.001281	0.0009901	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.75098	Disease causing

DBSNP ID

1 combination linked to ATP7B:c.3207C>A, p.His1069Gln

2 diseases linked to ATP7B:c.3207C>A, p.His1069Gln

Progressive non-fluent aphasia; Corticobasal syndrome

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