Mutation details:

Protein level identifier (NP_065753):

p.Ser232Leu

cDNA level identifier (NM_020702):

c.695C>T

Gene level identifier:

g.4605C>T

Archive identifier/Other designation:

p.S232L

Reference, alternative allele:

G, A

Genomic location hg(19)

9:34372247 (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 homozygous (1 in total).