Protein level identifier (NP_001073136):
whole gene deletion
cDNA level identifier (NM_001079668):
c.-99-2542230_4753+727614del
Gene level identifier:
g.1-2542230_4753+727614del
Archive identifier/Other designation:
whole gene deletion
Reference, alternative allele:
T+3.27Mb, T
Genomic location hg(19)
14:36257987 (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 heterozygous (1 in total).