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Details for CHD7:c.7198C>T, p.Arg2400Trp

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61769037	60856478

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.7198C>T

PROTEIN CHANGE

p.Arg2400Trp

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
1.318e-05	0.0	3.113e-05	0.0	0.0	0.0001011	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.788805	None

DBSNP ID

1 combination linked to CHD7:c.7198C>T, p.Arg2400Trp

1 disease linked to CHD7:c.7198C>T, p.Arg2400Trp

Congenital hypogonadotropic hypogonadism

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