cDNA level identifier (NM_000161):
c.626+1G>A
Gene level identifier:
g.57086G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
14:55312485 (not available on ExAC)
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).