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Details for CHD7:c.8250T>G, p.Phe2750Leu

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61777748	60865189

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.8250T>G

PROTEIN CHANGE

p.Phe2750Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.004	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002126	0.0	0.0	0.0	0.002414	0.0	0.0	0.0	0.0003008

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	1.456279	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.8250T>G, p.Phe2750Leu

1 disease linked to CHD7:c.8250T>G, p.Phe2750Leu

Kallmann syndrome

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