cDNA level identifier (NM_001079668):
c.464-2A>C
Gene level identifier:
g.3128A>T
Reference, alternative allele:
T, C
Genomic location hg(19)
14:36987227 (not available on ExAC)
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Definitely pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).