Protein level identifier (n.a.):
p.Lys261Asnfs*28
cDNA level identifier (n.a.):
c.783delA
Gene level identifier:
g.52878delA
Reference, alternative allele:
AT, A
Genomic location hg(19)
Gene name:
Consequence:
frameshift deletion
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).