Protein level identifier (n.a.):
p.Phe624Leufs*34
cDNA level identifier (n.a.):
c.1872_1875delCATT
Gene level identifier:
g.315827_315830delCATT
Reference, alternative allele:
CAATG, C
Genomic location hg(0)
not available
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).