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Details for MYOM3:c.1684G>A, p.Val562Ile

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
24413248	24086758

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1684G>A

PROTEIN CHANGE

p.Val562Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0029	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001322	0.001162	0.0001739	0.0	0.0001112	0.0	1.765e-05	0.000165	0.0001307

ESP
AA	EA
0.0004993	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.598846	Disease causing

DBSNP ID

1 combination linked to MYOM3:c.1684G>A, p.Val562Ile

1 disease linked to MYOM3:c.1684G>A, p.Val562Ile

Arthrogryposis syndrome

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