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Details for CNTN2:c.1075C>A, p.Arg359Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
205031094	205061966

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1075C>A

PROTEIN CHANGE

p.Arg359Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.0	0.0	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0007303	0.0001286	0.0	0.0	0.0008753	0.0	7.163e-05	0.0001657	0.005055

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.963809	Polymorphism

DBSNP ID

1 combination linked to CNTN2:c.1075C>A, p.Arg359Ser

1 disease linked to CNTN2:c.1075C>A, p.Arg359Ser

Normosmic congenital hypogonadotropic hypogonadism

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