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Details for GATA3:c.581T>G, p.Met194Arg

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
8100607	8058644

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.581T>G

PROTEIN CHANGE

p.Met194Arg

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
Tolerated	Possibly Damaging	3.292834	Disease causing

DBSNP ID

1 combination linked to GATA3:c.581T>G, p.Met194Arg

1 disease linked to GATA3:c.581T>G, p.Met194Arg

Müllerian aplasia

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