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Details for CHD7:c.5051-4C>T,

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61757805	60845246

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.5051-4C>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0034	0.0	0.0043	0.0	0.0119	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005763	0.001425	0.004567	0.006879	0.0	0.001078	0.00884	0.006069	0.004257

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.576308	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.5051-4C>T,

1 disease linked to CHD7:c.5051-4C>T,

Normosmic congenital hypogonadotropic hypogonadism

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