cDNA level identifier (NM_000161):
c.(?_-163-1)_(343+1_344-1)del
Genomic location hg(0)
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
14 heterozygous (14 in total).