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Details for CCDC141:c.4369G>A, p.Val1457Ile

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179699124	178834397

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.4369G>A

PROTEIN CHANGE

p.Val1457Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0	0.0043	0.0	0.004	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004465	0.001322	0.002284	0.009604	9.513e-05	0.003674	0.007634	0.005366	0.0003113

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.436302	Polymorphism

DBSNP ID

1 combination linked to CCDC141:c.4369G>A, p.Val1457Ile

1 disease linked to CCDC141:c.4369G>A, p.Val1457Ile

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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