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Details for CCDC141:c.182A>G, p.Lys61Arg

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179912054	179047327

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.182A>G

PROTEIN CHANGE

p.Lys61Arg

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.464993	Polymorphism

DBSNP ID

1 combination linked to CCDC141:c.182A>G, p.Lys61Arg

1 disease linked to CCDC141:c.182A>G, p.Lys61Arg

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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