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Details for CHD7:c.8416C>G, p.Leu2806Val

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61777914	60865355

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.8416C>G

PROTEIN CHANGE

p.Leu2806Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.003	0.0014	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001234	0.003928	0.004059	0.00101	0.0	0.0	0.0006892	0.002876	9.954e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.483338	Polymorphism

DBSNP ID

3 combinations linked to CHD7:c.8416C>G, p.Leu2806Val

OLI1534; OLI1536; OLI1544

1 disease linked to CHD7:c.8416C>G, p.Leu2806Val

46,XY disorder of sex development

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