Mutation details:

Protein level identifier (NP_065753):

p.Arg441Gly

cDNA level identifier (NM_020702):

c.1321C>G

Gene level identifier:

g.5231C>G

Archive identifier/Other designation:

p.R441G

Reference, alternative allele:

G, C

Genomic location hg(19)

9:34371621

Gene name:

MYORG

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).