Protein level identifier (n.a.):
p.Leu367Cysfs*29
cDNA level identifier (n.a.):
c.1099-2_1099delAGT
Gene level identifier:
g.63336_63338delAGT
Archive identifier/Other designation:
IVS7-2delAGT
Reference, alternative allele:
TAGT, T
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Possibly pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).