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Details for CHD7:c.1315C>T, p.Pro439Ser

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61655306	60742747

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1315C>T

PROTEIN CHANGE

p.Pro439Ser

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
4.013e-06	0.0	0.0	0.0	0.0	0.0	8.852e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.100981	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.1315C>T, p.Pro439Ser

1 disease linked to CHD7:c.1315C>T, p.Pro439Ser

Normosmic congenital hypogonadotropic hypogonadism

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