Mutation details:

Protein level identifier (NP_065753):

p.Trp75*

cDNA level identifier (NM_020702):

c.225G>A

Gene level identifier:

g.4135G>A

Archive identifier/Other designation:

p.W75*

Reference, alternative allele:

C, T

Genomic location hg(19)

9:34372717

Gene name:

MYORG

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

2 homozygous, 1 compound heterozygous (3 in total).

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