Protein level identifier (n.a.):
p.Leu564Glnfs*6
cDNA level identifier (n.a.):
c.1691delT
Gene level identifier:
g.83611delT
Reference, alternative allele:
CT, C
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).