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Details for CHD7:c.3299G>A, p.Arg1100His

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61736496	60823937

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3299G>A

PROTEIN CHANGE

p.Arg1100His

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
5.62e-05	0.0	0.0001449	0.0	0.0	0.0	6.2e-05	0.0003309	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.394983	Disease causing

DBSNP ID

1 combination linked to CHD7:c.3299G>A, p.Arg1100His

1 disease linked to CHD7:c.3299G>A, p.Arg1100His

Normosmic congenital hypogonadotropic hypogonadism

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