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Details for SOX10:c.191A>T, p.Asp64Val

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
38379601	37983594

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.191A>T

PROTEIN CHANGE

p.Asp64Val

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
2.076e-05	0.0	0.0	0.0	0.0	0.0	4.621e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.626591	Polymorphism

DBSNP ID

1 combination linked to SOX10:c.191A>T, p.Asp64Val

1 disease linked to SOX10:c.191A>T, p.Asp64Val

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