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Details for DUSP6:c.340G>T,

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
89745477	89351700

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.340G>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.4663	0.2753	0.4784	0.5992	0.5557	0.4867

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.5227	0.2772	0.5166	0.4875	0.6094	0.6262	0.537	0.5249	0.4815

ESP
AA	EA
0.2822	0.5079

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.721811	Polymorphism

DBSNP ID

1 combination linked to DUSP6:c.340G>T,

1 disease linked to DUSP6:c.340G>T,

Normosmic congenital hypogonadotropic hypogonadism

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