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Details for CHD7:c.1397C>T, p.Ser466Leu

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61655388	60742829

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1397C>T

PROTEIN CHANGE

p.Ser466Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001029	0.0002611	0.0003202	0.001495	0.0	4.654e-05	0.001908	0.001328	6.572e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.078157	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.1397C>T, p.Ser466Leu

1 disease linked to CHD7:c.1397C>T, p.Ser466Leu

Kallmann syndrome

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