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Details for DCC:c.619A>G, p.Ile207Val

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
50432620	52906250

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.619A>G

PROTEIN CHANGE

p.Ile207Val

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
1.995e-05	0.0	0.0	0.0	0.000109	0.0	2.653e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.344058	Polymorphism

DBSNP ID

1 combination linked to DCC:c.619A>G, p.Ile207Val

1 disease linked to DCC:c.619A>G, p.Ile207Val

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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