Protein level identifier (n.a.):
p.Leu549_Thr550dup
cDNA level identifier (n.a.):
c.1644_1649dupCCTAAC
Gene level identifier:
g.81354_81359dupCCTAAC
Reference, alternative allele:
C, CCCTAAC
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Possibly pathogenic
CADD score:
20
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).