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Details for HAX1:c.430dup, p.Val144GlyfsTer5

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
154246356	154273880

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

TG

TRANSCRIPT

N.A.

CDNA CHANGE

c.430dup

PROTEIN CHANGE

p.Val144GlyfsTer5

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.425074	Disease causing

DBSNP ID

1 combination linked to HAX1:c.430dup, p.Val144GlyfsTer5

1 disease linked to HAX1:c.430dup, p.Val144GlyfsTer5

Severe congenital neutropenia

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