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Details for WDR11:c.2305A>G, p.Met769Val

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
122649483	120889971

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.2305A>G

PROTEIN CHANGE

p.Met769Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0014	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000565	6.155e-05	0.0002024	0.0	0.0	0.0	0.001144	0.0004896	3.269e-05

ESP
AA	EA
0.000227	0.001977

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.634203	Polymorphism

DBSNP ID

1 combination linked to WDR11:c.2305A>G, p.Met769Val

1 disease linked to WDR11:c.2305A>G, p.Met769Val

Kallmann syndrome

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