Mutation details:

Protein level identifier (NP_065753):

p.Tyr477*

cDNA level identifier (NM_020702):

c.1431C>A

Gene level identifier:

g.5341C>A

Archive identifier/Other designation:

p.Y477*

Reference, alternative allele:

G, T

Genomic location hg(19)

9:34371511 (not available on ExAC)

Gene name:

MYORG

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).