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Details for MYO18B:c.5020G>A, p.Gly1674Arg

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
26299670	25903703

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5020G>A

PROTEIN CHANGE

p.Gly1674Arg

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
1.663e-05	0.0	0.0	0.0	0.0002291	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.102008	Polymorphism

DBSNP ID

1 combination linked to MYO18B:c.5020G>A, p.Gly1674Arg

1 disease linked to MYO18B:c.5020G>A, p.Gly1674Arg

Isolated Klippel-Feil syndrome

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