cDNA level identifier (NM_001079668):
c.464-9C>A
Gene level identifier:
g.3121C>A
Archive identifier/Other designation:
p.Ile155Thrext*257
Reference, alternative allele:
G, T
Genomic location hg(19)
14:36987234 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).