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Details for CHD7:c.6989G>C, p.Gly2330Ala

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61768586	60856027

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.6989G>C

PROTEIN CHANGE

p.Gly2330Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0045	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001594	0.002422	8.805e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.96492	None

DBSNP ID

1 combination linked to CHD7:c.6989G>C, p.Gly2330Ala

1 disease linked to CHD7:c.6989G>C, p.Gly2330Ala

46,XY disorder of sex development

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