Mutation details:

Protein level identifier (NP_065753):

p.Met35Val

cDNA level identifier (NM_020702):

c.103A>G

Gene level identifier:

g.4013A>G

Archive identifier/Other designation:

p.M35V

Reference, alternative allele:

T, C

Genomic location hg(19)

9:34372839

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).