Protein level identifier (n.a.):
p.Met572Valfs*4
cDNA level identifier (n.a.):
c.1714_1715delAT
Gene level identifier:
g.83634_83635delAT
Reference, alternative allele:
TAT, 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:
7 heterozygous (7 in total).