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Details for CHD7:c.4033C>T, p.Arg1345Cys

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61749419	60836860

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.4033C>T

PROTEIN CHANGE

p.Arg1345Cys

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.603905	Disease causing

DBSNP ID

1 combination linked to CHD7:c.4033C>T, p.Arg1345Cys

2 diseases linked to CHD7:c.4033C>T, p.Arg1345Cys

CHARGE syndrome; Kallmann syndrome

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