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Details for CUL4B:c.26G>A, p.Gly9Glu

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
119708447	120574592

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.26G>A

PROTEIN CHANGE

p.Gly9Glu

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
0.000158	0.0	0.0001458	0.0	0.0	0.0	0.0002685	0.0006618	0.0

ESP
AA	EA
0.0002608	0.0004459

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	-0.01233	Polymorphism

DBSNP ID

1 combination linked to CUL4B:c.26G>A, p.Gly9Glu

1 disease linked to CUL4B:c.26G>A, p.Gly9Glu

Disorder of sex development

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