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Details for CHD7:c.4516G>A, p.Gly1506Ser

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61750797	60838238

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4516G>A

PROTEIN CHANGE

p.Gly1506Ser

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
2.576e-05	0.0	0.0	0.0	0.0003541	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.286341	Disease causing

DBSNP ID

3 combinations linked to CHD7:c.4516G>A, p.Gly1506Ser

OLI860; OLI867; OLI898

2 diseases linked to CHD7:c.4516G>A, p.Gly1506Ser

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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