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Details for MYO18B:c.2695+3A>G,

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
26219648	25823681

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2695+3A>G

PROTEIN CHANGE

None

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
8.048e-06	0.0	0.0	0.0	0.0001113	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.818509	Disease causing

DBSNP ID

1 combination linked to MYO18B:c.2695+3A>G,

1 disease linked to MYO18B:c.2695+3A>G,

Isolated Klippel-Feil syndrome

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