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Details for CDH23:c.9077+7C>T,

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73570333	71810576

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.9077+7C>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.003	0.0	0.0	0.0149	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001534	0.0	0.0	0.002389	0.01758	0.0	5.32e-05	0.001158	0.0009478

ESP
AA	EA
0.0	0.0001184

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.194216	Polymorphism

DBSNP ID

2 combinations linked to CDH23:c.9077+7C>T,

1 disease linked to CDH23:c.9077+7C>T,

46,XY disorder of sex development

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