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Details for DCC:c.2267G>A, p.Arg756Gln

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
50866185	53339815

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2267G>A

PROTEIN CHANGE

p.Arg756Gln

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
2.388e-05	6.152e-05	0.0	9.925e-05	5.443e-05	0.0	2.641e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.3247	Disease causing

DBSNP ID

1 combination linked to DCC:c.2267G>A, p.Arg756Gln

1 disease linked to DCC:c.2267G>A, p.Arg756Gln

Hypogonadotropic hypogonadism with absent puberty phenotype

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