Protein level identifier (n.a.):
p.Trp74Cysfs*8
cDNA level identifier (n.a.):
c.219_220dupGT
Gene level identifier:
g.465054_465055dupGT
Archive identifier/Other designation:
321_322insGT, Trp74/Stop81
Reference, alternative allele:
C, CCA
Genomic location hg(19)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
6 homozygous (6 in total).