cDNA level identifier (NM_000161):
c.626+1G>C
Gene level identifier:
g.57086G>C
Reference, alternative allele:
C, G
Genomic location hg(0)
14:55312483 (not available on ExAC)
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Definitely pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).