Protein level identifier (NP_000152):
p.Pro58Alafs*8
cDNA level identifier (NM_000161):
c.172-175delCCCC
Gene level identifier:
g.361_364delCCCC
Reference, alternative allele:
CGGGG, C
Genomic location hg(0)
14:55369206 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).