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Details for CHD7:c.1727C>T, p.Pro576Leu

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61693620	60781061

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1727C>T

PROTEIN CHANGE

p.Pro576Leu

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
3.681e-05	0.0	5.93e-05	0.0	5.663e-05	0.0	2.7e-05	0.0003377	3.36e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.296385	Disease causing

DBSNP ID

1 combination linked to CHD7:c.1727C>T, p.Pro576Leu

1 disease linked to CHD7:c.1727C>T, p.Pro576Leu

Kallmann syndrome

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