Protein level identifier (NP_055542):
p.Tyr2688Thrfs*50
cDNA level identifier (NM_014727):
c.8061delC
Gene level identifier:
g.20451_20451delC
Reference, alternative allele:
CC, C
Genomic location hg(0)
19:36229370 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).