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Details for ADGRB2:c.188C>T, p.Ser63Leu

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
32222250	31756649

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.188C>T

PROTEIN CHANGE

p.Ser63Leu

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
2.47e-05	0.0001264	0.0	0.0	5.492e-05	0.0	2.743e-05	0.0	0.0

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.16059	Polymorphism

DBSNP ID

1 combination linked to ADGRB2:c.188C>T, p.Ser63Leu

1 disease linked to ADGRB2:c.188C>T, p.Ser63Leu

Amyotrophic lateral sclerosis

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