cDNA level identifier (NM_032409):
c.(387+1_388-1)_(675+1_676-1)dup
Archive identifier/Other designation:
duplication of exon 2
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Not available
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).