Mutation details:

Protein level identifier (n.a.):

p.Trp100Gly

cDNA level identifier (n.a.):

c.298T>G

Gene level identifier:

g.27916T>G

Reference, alternative allele:

A, C

Genomic location hg(19)

7:94257606

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:

2 heterozygous (2 in total).

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