Mutation details:

Protein level identifier (NP_065753):

p.Trp443*

cDNA level identifier (NM_020702):

c.1328G>A

Gene level identifier:

g.5238G>A

Archive identifier/Other designation:

p.W443*

Reference, alternative allele:

C, T

Genomic location hg(19)

9:34371614 (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 compound heterozygous (1 in total).