Protein level identifier (NP_001073136):
whole gene deletion
cDNA level identifier (NM_001079668):
c.-99-2166155_*881+171496del
Gene level identifier:
g.1-2166155_4753+171496del
Archive identifier/Other designation:
whole gene deletion
Reference, alternative allele:
T+2342403 bp, T
Genomic location hg(19)
14:36814105 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 n.a. (1 in total).