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Details for GATA2:p.Arg348Ter

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
128200721	128481878

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg348Ter

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	7.956106	Disease causing

DBSNP ID

1 combination linked to GATA2:p.Arg348Ter

1 disease linked to GATA2:p.Arg348Ter

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