Mutation details:

Protein level identifier (NP_065753):

p.Asp354del

cDNA level identifier (NM_020702):

c.1060_1062delGAC

Gene level identifier:

g.4970_4972delGAC

Archive identifier/Other designation:

p.D354del

Reference, alternative allele:

TGTC, T

Genomic location hg(19)

9:34371879 (not available on ExAC)

Gene name:

MYORG

Consequence:

in frame indel

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).