Protein level identifier (n.a.):
p.Lys151Valfs*9
cDNA level identifier (n.a.):
c.448_451delAAGA
Gene level identifier:
g.23914_23917delAAGA
Reference, alternative allele:
TAAGA, T
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).