cDNA level identifier (NM_001079668):
c.464-1G>A
Gene level identifier:
g.3129G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
14:36987226 (not available on ExAC)
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Possibly pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).