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Details for DUSP6:p.Asn355Ile

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
89743113	89349336

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Asn355Ile

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
3.976e-06	0.0	0.0	0.0	0.0	0.0	0.0	0.0001629	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.08724	Disease causing

DBSNP ID

1 combination linked to DUSP6:p.Asn355Ile

1 disease linked to DUSP6:p.Asn355Ile

Kallmann syndrome

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