Protein level identifier (n.a.):
p.Leu426Phefs*16
cDNA level identifier (n.a.):
c.1276_1277delCT
Gene level identifier:
g.72983_72984delCT
Reference, alternative allele:
TCT, T
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).