Protein level identifier (NP_071372):
p.Leu552Profs*238
cDNA level identifier (NM_022089):
c.1632_1653dup22
Gene level identifier:
g.18198delinsTGGCCAGTGCTCGGAGCAGGGGC
Reference, alternative allele:
G, GCAGGGGCCCCACAGGCAGGCGG
Genomic location hg(0)
1:17320219 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
33
Number of all included cases:
5 homozygous (5 in total).