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Details for MAP3K1:c.3418A>G, p.Met1140Val

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
56178445	56882618

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.3418A>G

PROTEIN CHANGE

p.Met1140Val

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
9.638e-05	0.0001292	0.0	0.0	0.001002	0.0	3.545e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.830028	Polymorphism

DBSNP ID

1 combination linked to MAP3K1:c.3418A>G, p.Met1140Val

1 disease linked to MAP3K1:c.3418A>G, p.Met1140Val

46,XY disorder of sex development

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