Protein level identifier (n.a.):
p.Asn330Lysfs*14
cDNA level identifier (n.a.):
c.990_993delTGAA
Gene level identifier:
g.52211_52214delTGAA
Reference, alternative allele:
ATGAA, A
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).