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Details for CHD7:c.1030G>A, p.Val344Ile

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61655021	60742462

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1030G>A

PROTEIN CHANGE

p.Val344Ile

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
4.011e-05	0.0	0.0	9.934e-05	0.0001669	0.0	4.424e-05	0.0001651	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.821573	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.1030G>A, p.Val344Ile

1 disease linked to CHD7:c.1030G>A, p.Val344Ile

Syndrome with 46,XY disorder of sex development

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