Protein level identifier (NP_006507):
p.Asn219Glnfs*18
cDNA level identifier (NM_006516):
c.654dupC
Gene level identifier:
g.28962dupC
Reference, alternative allele:
T, TG
Genomic location hg(19)
1:43395568 (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:
1 heterozygous (1 in total).