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Details for ELANE:c.74C>T, p.Ala25Val

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
852882	852882

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.74C>T

PROTEIN CHANGE

p.Ala25Val

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
4.539e-06	0.0	0.0	0.0	0.0	0.0	1.016e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.752384	Polymorphism

DBSNP ID

1 combination linked to ELANE:c.74C>T, p.Ala25Val

1 disease linked to ELANE:c.74C>T, p.Ala25Val

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