Mutation details:

Protein level identifier (n.a.):

p.Gly112Arg

cDNA level identifier (n.a.):

c.334G>A

Gene level identifier:

g.27952G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

7:94257570

Gene name:

SGCE

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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