Protein level identifier (NP_001073136):
p.Ala330Serfs*25
cDNA level identifier (NM_001079668):
c.978_1056delCGCGCAGGCGGCGGCAGCGGCCATCTCCGTGGGCAGCGGTGGCGCCGGCCTTGGCGCACACCCGGGCCACCAGCCAGGC
Gene level identifier:
g.3644_3722delCGCGCAGGCGGCGGCAGCGGCCATCTCCGTGGGCAGCGGTGGCGCCGGCCTTGGCGCACACCCGGGCCACCAGCCAGGC
Archive identifier/Other designation:
S330fsX24
Reference, alternative allele:
TGCCTGGCTGGTGGCCCGGGTGTGCGCCAAGGCCGGCGCCACCGCTGCCCACGGAGATGGCCGCTGCCGCCGCCTGCGCG, T
Genomic location hg(19)
14:36986632 (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:
5 heterozygous (5 in total).