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Details for CNTN2:c.1888C>G, p.Arg630Gly

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
205035640	205066512

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1888C>G

PROTEIN CHANGE

p.Arg630Gly

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
7.96e-06	0.0	0.0	0.0	5.438e-05	0.0	8.802e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.113846	Polymorphism

DBSNP ID

1 combination linked to CNTN2:c.1888C>G, p.Arg630Gly

1 disease linked to CNTN2:c.1888C>G, p.Arg630Gly

Normosmic congenital hypogonadotropic hypogonadism

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