Protein level identifier (n.a.):
p.Lys311Thrfs*2
cDNA level identifier (n.a.):
c.932_938delAAAAAGA
Gene level identifier:
g.52153_52159delAAAAAGA
Reference, alternative allele:
AAAAAAGA, A
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).