Protein level identifier (NP_001073136):
p.Ala327Glyfs*52
cDNA level identifier (NM_001079668):
c.980_986delCGCAGGC
Gene level identifier:
g.3646_3652delCGCAGGC
Archive identifier/Other designation:
p.Ala297Glyfs*52
Reference, alternative allele:
CGCCTGCG, C
Genomic location hg(19)
14:36986702 (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).