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Details for MYO18B:c.662T>C, p.Leu221Pro

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
26164545	25768578

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.662T>C

PROTEIN CHANGE

p.Leu221Pro

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
3.444e-05	0.0	0.0	0.0	0.0003971	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.405245	Polymorphism

DBSNP ID

1 combination linked to MYO18B:c.662T>C, p.Leu221Pro

1 disease linked to MYO18B:c.662T>C, p.Leu221Pro

Isolated Klippel-Feil syndrome

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