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Details for CHD7:c.8188G>A, p.Ala2730Thr

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61777686	60865127

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.8188G>A

PROTEIN CHANGE

p.Ala2730Thr

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
1.245e-05	0.0	0.0	0.0	5.682e-05	0.0	1.833e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.139245	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.8188G>A, p.Ala2730Thr

1 disease linked to CHD7:c.8188G>A, p.Ala2730Thr

Kallmann syndrome

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