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Details for CTU2:c.1127G>A, p.Arg376Gln

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
88780820	88714412

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1127G>A

PROTEIN CHANGE

p.Arg376Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0026	0.0076	0.0014	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002476	0.01002	0.00165	0.0	0.0	0.0007867	0.002983	0.002626	0.001046

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.502159	Polymorphism

DBSNP ID

1 combination linked to CTU2:c.1127G>A, p.Arg376Gln

1 disease linked to CTU2:c.1127G>A, p.Arg376Gln

46,XY disorder of sex development

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