Protein level identifier (NP_115785):
p.Asn521Ilefs*2
cDNA level identifier (NM_032409):
c.1560delG
Gene level identifier:
g.17051delG
Reference, alternative allele:
AG, A
Genomic location hg(19)
1:20976997 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).