Protein level identifier (n.a.):
p.Pro296Serfs*2
cDNA level identifier (n.a.):
c.885insT
Gene level identifier:
g.55412insT
Reference, alternative allele:
G, GA
Genomic location hg(19)
Gene name:
Consequence:
frameshift insertion
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).