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Details for CHD7:c.8672A>G, p.Asn2891Ser

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61778170	60865611

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.8672A>G

PROTEIN CHANGE

p.Asn2891Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002328	0.0	0.0004925	9.966e-05	0.0	0.0	0.0003365	0.0003309	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.214587	Polymorphism

DBSNP ID

2 combinations linked to CHD7:c.8672A>G, p.Asn2891Ser

OLI1294; OLI1301

1 disease linked to CHD7:c.8672A>G, p.Asn2891Ser

Kallmann syndrome

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