Protein level identifier (NP_982271):
p.Leu1406Phefs*42
cDNA level identifier (NM_203446):
c.4217_4218insC
Gene level identifier:
g.96433_96434insC
Reference, alternative allele:
C, CG
Genomic location hg(0)
21:34003926 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
2 compound heterozygous (2 in total).