Mutation details:

Protein level identifier (NP_065753):

p.Arg261Leu

cDNA level identifier (NM_020702):

c.782_783delinsTT

Gene level identifier:

g.4692_4693delinsTT

Archive identifier/Other designation:

p.R261L

Reference, alternative allele:

AGC, AAA

Genomic location hg(19)

9:34372158 (not available on ExAC)

Gene name:

MYORG

Consequence:

missense

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).