Protein level identifier (n.a.):
p.Phe262llefs*8
cDNA level identifier (n.a.):
c.783dupA
Gene level identifier:
g.52878dupA
Reference, alternative allele:
A, AT
Genomic location hg(19)
Gene name:
Consequence:
frameshift insertion
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).