Protein level identifier (n.a.):
p.Gly283Ilefs*9
cDNA level identifier (n.a.):
c.843_846dupATCT
Gene level identifier:
g.51188_51191dupATCT
Reference, alternative allele:
T, TATCT
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
31
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).