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Details for ATP7A:c.2448A>C, p.Gln816His

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
77270200	78014703

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2448A>C

PROTEIN CHANGE

p.Gln816His

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
1.095e-05	0.0	0.0	0.0	0.0	6.251e-05	0.0	0.000222	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.309004	None

DBSNP ID

1 combination linked to ATP7A:c.2448A>C, p.Gln816His

1 disease linked to ATP7A:c.2448A>C, p.Gln816His

Amyotrophic lateral sclerosis

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