Protein level identifier (NP_000152):
p.Arg249Glyfs*77
cDNA level identifier (NM_000161):
c.745delA
Gene level identifier:
g.58828delA
Reference, alternative allele:
CT, T
Genomic location hg(0)
14:55310742 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).