Protein level identifier (NP_001073136):
p.Ala82Argext*351
cDNA level identifier (NM_001079668):
c.243_256delGGCCATGCAGCAGC
Gene level identifier:
g.1945_1958delGGCCATGCAGCAGC
Archive identifier/Other designation:
c.153_166del; p.A52Rfs*351
Reference, alternative allele:
TGCTGCTGCATGGCC, T
Genomic location hg(19)
14:36988396 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Definitely pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).