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Details for CHD7:c.5512A>G, p.Met1838Val

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61763159	60850600

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.5512A>G

PROTEIN CHANGE

p.Met1838Val

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
4.059e-06	0.0	0.0	0.0	0.0	0.0	8.964e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.964815	None

DBSNP ID

1 combination linked to CHD7:c.5512A>G, p.Met1838Val

1 disease linked to CHD7:c.5512A>G, p.Met1838Val

Normosmic congenital hypogonadotropic hypogonadism

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