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Details for CCDC141:c.4036C>T, p.Arg1346Trp

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179701910	178837183

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.4036C>T

PROTEIN CHANGE

p.Arg1346Trp

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
7.974e-06	0.0	0.0	0.0	0.0	0.0	1.765e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.176414	Polymorphism

DBSNP ID

1 combination linked to CCDC141:c.4036C>T, p.Arg1346Trp

1 disease linked to CCDC141:c.4036C>T, p.Arg1346Trp

Hypogonadotropic hypogonadism with absent puberty phenotype

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