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Details for CTU2:c.710C>T, p.Aal237Val

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
88779286	88712878

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.710C>T

PROTEIN CHANGE

p.Aal237Val

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
0.0002655	0.0	0.0	0.0	0.0	0.001008	0.0003187	0.0	0.0002635

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.920032	Disease causing

DBSNP ID

1 combination linked to CTU2:c.710C>T, p.Aal237Val

1 disease linked to CTU2:c.710C>T, p.Aal237Val

46,XY disorder of sex development

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