Protein level identifier (NP_001073136):
p.Asp296Thrfs*85
cDNA level identifier (NM_001079668):
c.885delA
Gene level identifier:
g.3551delA
Archive identifier/Other designation:
p.Lys265LysfsX87
Reference, alternative allele:
CT, C
Genomic location hg(19)
14:36986803 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).