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Details for MYO18B:c.3397C>T, p.Arg1133Trp

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
26242095	25846128

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3397C>T

PROTEIN CHANGE

p.Arg1133Trp

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
6.887e-05	7.714e-05	0.0	0.0	0.0	0.0	0.0001206	0.0	7.386e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.976094	Disease causing

DBSNP ID

1 combination linked to MYO18B:c.3397C>T, p.Arg1133Trp

1 disease linked to MYO18B:c.3397C>T, p.Arg1133Trp

Arthrogryposis syndrome

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