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Details for CBX2:c.554G>A, p.Gly185Glu

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
77755866	79782067

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.554G>A

PROTEIN CHANGE

p.Gly185Glu

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
4.006e-06	0.0	0.0	0.0	0.0	0.0	8.879e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	0.100494	Polymorphism

DBSNP ID

1 combination linked to CBX2:c.554G>A, p.Gly185Glu

2 diseases linked to CBX2:c.554G>A, p.Gly185Glu

Androgen insensitivity syndrome; 46,XY disorder of sex development

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