Mutation details:

Protein level identifier (NP_065753):

p.Leu143_Ile147del

cDNA level identifier (NM_020702):

c.428_442delTGCACTTCTTCATCC

Gene level identifier:

g.4338_4352delTGCACTTCTTCATCC

Archive identifier/Other designation:

p.L143_I147del

Reference, alternative allele:

TGGATGAAGAAGTGCA, T

Genomic location hg(19)

9:34372499 (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).