Protein level identifier (NP_000152):
p.Met211Valfs*38
cDNA level identifier (NM_000161):
c.631_632delAT
Gene level identifier:
g.58714_58715delAT
Reference, alternative allele:
CAT, C
Genomic location hg(0)
14:55310855 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Definitely pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
10 heterozygous, 2 compound heterozygous (12 in total).