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Details for MAP3K1:c.3557A>G, p.Glu1186Gly

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
56178584	56882757

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.3557A>G

PROTEIN CHANGE

p.Glu1186Gly

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
Deleterious	Damaging	4.143664	None

DBSNP ID

1 combination linked to MAP3K1:c.3557A>G, p.Glu1186Gly

1 disease linked to MAP3K1:c.3557A>G, p.Glu1186Gly

46,XY disorder of sex development

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