Mutation details:

Protein level identifier (NP_065753):

p.Gln203*

cDNA level identifier (NM_020702):

c.607C>T

Gene level identifier:

g.4517C>T

Archive identifier/Other designation:

p.Q203*

Reference, alternative allele:

G, A

Genomic location hg(19)

9:34372335 (not available on ExAC)

Gene name:

MYORG

Consequence:

nonsense

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).