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Details for CUL4A:c.86T>C, p.Val29Ala

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
113882307	113227993

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.86T>C

PROTEIN CHANGE

p.Val29Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0	0.0014	0.0	0.008	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00515	0.001107	0.002024	0.001687	5.437e-05	0.003743	0.009152	0.005375	0.001111

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.726746	Polymorphism

DBSNP ID

1 combination linked to CUL4A:c.86T>C, p.Val29Ala

1 disease linked to CUL4A:c.86T>C, p.Val29Ala

Hypogonadotropic hypogonadism with partial puberty phenotype

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