Protein level identifier (NP_115785):
p.Tyr444Metfs*39
cDNA level identifier (NM_032409):
c.1329delC
Gene level identifier:
g.15618delC
Archive identifier/Other designation:
p.A443AfsX481
Reference, alternative allele:
GC, G
Genomic location hg(19)
1:20975563 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
4 homozygous (4 in total).