This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for CDH23:c.6712+37C>T,

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73553434	71793677

VARIANT EFFECT

unknown

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.6712+37C>T

PROTEIN CHANGE

None

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
7.287e-06	0.0	0.0	0.0	7.831e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.139275	Polymorphism

DBSNP ID

1 combination linked to CDH23:c.6712+37C>T,

1 disease linked to CDH23:c.6712+37C>T,

46,XY disorder of sex development

Found any issues with the data on this page? Report this entry.