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Details for DUSP6:c.1037C>T, p.Thr346Met

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
89743140	89349363

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1037C>T

PROTEIN CHANGE

p.Thr346Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002982	6.152e-05	0.0005204	0.002877	0.0	0.0	0.0002198	0.0003257	0.0

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.482398	Disease causing

DBSNP ID

1 combination linked to DUSP6:c.1037C>T, p.Thr346Met

1 disease linked to DUSP6:c.1037C>T, p.Thr346Met

Kallmann syndrome

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