Mutation details:

Protein level identifier (NP_065753):

p.Ile656Thr

cDNA level identifier (NM_020702):

c.1967T>C

Gene level identifier:

g.5874A>G

Archive identifier/Other designation:

c.1694A>G; p.Ile655Thr

Reference, alternative allele:

A, G

Genomic location hg(19)

9:34370975

Gene name:

MYORG

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

3 homozygous (3 in total).

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