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Details for CHD7:c.2656C>T, p.Arg886Trp

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61732608	60820049

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2656C>T

PROTEIN CHANGE

p.Arg886Trp

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.432227	Disease causing

DBSNP ID

2 combinations linked to CHD7:c.2656C>T, p.Arg886Trp

OLI1353; OLI912

1 disease linked to CHD7:c.2656C>T, p.Arg886Trp

Normosmic congenital hypogonadotropic hypogonadism

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