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Details for CHD7:c.1117C>T, p.Leu373Phe

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61655108	60742549

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1117C>T

PROTEIN CHANGE

p.Leu373Phe

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
2.006e-05	0.0001291	0.0	0.0	0.0	0.0	2.654e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.480503	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.1117C>T, p.Leu373Phe

1 disease linked to CHD7:c.1117C>T, p.Leu373Phe

Hypogonadotropic hypogonadism with absent puberty phenotype

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