Protein level identifier (n.a.):
p.Ser1133_Pro1135dup
cDNA level identifier (n.a.):
c.3396_3404dupATCCAATCC
Gene level identifier:
g.337328_337336dupATCCAATCC
Reference, alternative allele:
G, GGGATTGGAT
Genomic location hg(0)
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Possibly pathogenic
CADD score:
19
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).