cDNA level identifier (NM_018713):
c.719-5_*276+97693
Gene level identifier:
g.40149_43475+97693del
Archive identifier/Other designation:
deletion of exons 3-4
Reference, alternative allele:
C+101138, C
Genomic location hg(19)
1:219990802 (not available on ExAC)
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
4 homozygous (4 in total).