Protein level identifier (n.a.):
p.Leu29Glnfs*25
cDNA level identifier (n.a.):
c.67_85dup19
Gene level identifier:
g.288_306dup19
Reference, alternative allele:
C, CAGGCCTCCGCCCCCTTGCC
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Possibly pathogenic
CADD score:
15
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).