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Details for ANG:c.232A>G, p.Lys78Glu

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
21161955	20693796

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.232A>G

PROTEIN CHANGE

p.Lys78Glu

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
0.000175	0.0	2.891e-05	0.0	0.0	0.0001848	0.000334	0.0001629	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.309529	Polymorphism

DBSNP ID

2 combinations linked to ANG:c.232A>G, p.Lys78Glu

1 disease linked to ANG:c.232A>G, p.Lys78Glu

Amyotrophic lateral sclerosis

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