cDNA level identifier (n.a.):
c.1601_1608delins30
Gene level identifier:
g.79790_79797delins30
Reference, alternative allele:
CTAGCACAA, C+30
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).