Mutation details:

Protein level identifier (NP_065753):

p.Phe411Leufs*23

cDNA level identifier (NM_020702):

c.1233delC

Gene level identifier:

g.5143delC

Archive identifier/Other designation:

p.F411Lfs*23

Reference, alternative allele:

CG, C

Genomic location hg(19)

9:34371708 (not available on ExAC)

Gene name:

MYORG

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 homozygous (6 in total).