Protein level identifier (NP_071372):
p.Leu1085Trpfs*4
cDNA level identifier (NM_022089):
c.3253delC
Gene level identifier:
g.25314delC
Reference, alternative allele:
AG, A
Genomic location hg(0)
1:17313109 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
33
Number of all included cases:
2 compound heterozygous (2 in total).