Protein level identifier (NP_075063):
p.Asp31Glyfs*3
cDNA level identifier (NM_022912):
c.89dupA
Gene level identifier:
g.55898dupA
Reference, alternative allele:
C, CT
Genomic location hg(19)
not available
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).