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Details for MYOM3:c.3534+56G>A,

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
24392325	24065835

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3534+56G>A

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0118	0.0	0.013	0.0	0.0268	0.0235

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.02239	0.004145	0.01098	0.05707	0.00039	0.01021	0.0269	0.02841	0.03677

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	0.153022	Polymorphism

DBSNP ID

1 combination linked to MYOM3:c.3534+56G>A,

1 disease linked to MYOM3:c.3534+56G>A,

Arthrogryposis syndrome

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