cDNA level identifier (NM_001079668):
c.464-2A>T
Gene level identifier:
g.3128A>T
Archive identifier/Other designation:
IVS2-2 A>T
Reference, alternative allele:
T, A
Genomic location hg(19)
14:36987227 (not available on ExAC)
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).