Protein level identifier (NP_001073136):
p.Ile185Serfs*126
cDNA level identifier (NM_001079668):
c.463+4A>G
Gene level identifier:
g.2169A>G
Archive identifier/Other designation:
p.Ile155SerfsX126
Reference, alternative allele:
T, C
Genomic location hg(19)
14:36988186 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).