cDNA level identifier (NM_000345):
c.(?_-1471)_(*575_?)dup
Archive identifier/Other designation:
whole gene duplication
Reference, alternative allele:
C, C+6401935bp
Genomic location hg(19)
4:88349206 (not available on ExAC)
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 homozygous, 45 heterozygous (47 in total).