Protein level identifier (NP_001073136):
p.Met83Hisext*355
cDNA level identifier (NM_001079668):
c.246dupC
Gene level identifier:
g.1948dupC
Archive identifier/Other designation:
p.Met53HisfsX355
Reference, alternative allele:
T, TG
Genomic location hg(19)
14:36988405 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Definitely pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).