Protein level identifier (NP_006507):
p.Gln282_Ser285del
cDNA level identifier (NM_006516):
c.843_854delCCAGCAGCTGTC
Gene level identifier:
g.29243_29254delCCAGCAGCTGTC
Archive identifier/Other designation:
c.1022_1033del
Reference, alternative allele:
AGACAGCTGCTGG, A
Genomic location hg(19)
1:43395276 (not available on ExAC)
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
23
Positive functional evidence:
Number of all included cases:
3 heterozygous (3 in total).