Protein level identifier (n.a.):
p.Leu552_Asp555delinsPheAspLeu
cDNA level identifier (n.a.):
c.1656_1664delinsTGACCT
Gene level identifier:
g.81366_81374delinsTGACCT
Reference, alternative allele:
TGGCAAAAGA, TTGACCT
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).