Mutation details:

Protein level identifier (NP_065753):

p.Arg116_Ser117insLeuAlaPheArg

cDNA level identifier (NM_020702):

c.348_349insCTGGCC TTCCGC

Gene level identifier:

g.4258_4259insCTGGCC TTCCGC

Archive identifier/Other designation:

p.R116_S117insLAFR

Reference, alternative allele:

A, AGCGGAAGGCCAG

Genomic location hg(19)

9:34372593

Gene name:

MYORG

Consequence:

in frame indel

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).

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