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Details for MYRF:c.1222A>G, p.Ile408Val

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
61541545	61774073

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1222A>G

PROTEIN CHANGE

p.Ile408Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000434	0.0002462	0.001794	0.0	0.0	0.0	0.0002993	0.001468	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.627437	Polymorphism

DBSNP ID

3 combinations linked to MYRF:c.1222A>G, p.Ile408Val

OLI1512; OLI1515; OLI1536

1 disease linked to MYRF:c.1222A>G, p.Ile408Val

46,XY disorder of sex development

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