Protein level identifier (NP_001073136):
deletion of promotor and exon 1
cDNA level identifier (NM_001079668):
c.-99-765345_77+106del
Gene level identifier:
g.1-765345_1674del
Archive identifier/Other designation:
whole gene deletion
Reference, alternative allele:
C+767014 bp, T
Genomic location hg(19)
14:36988680 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).