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Details for CHD7:c.3366G>C, p.Lys1122Asn

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61736563	60824004

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.3366G>C

PROTEIN CHANGE

p.Lys1122Asn

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
4.024e-05	0.0	0.0	0.0	0.0	0.0	8.888e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.092848	Disease causing

DBSNP ID

1 combination linked to CHD7:c.3366G>C, p.Lys1122Asn

1 disease linked to CHD7:c.3366G>C, p.Lys1122Asn

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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