cDNA level identifier (NM_000161):
c.541+1G>C
Gene level identifier:
g.55755G>C
Reference, alternative allele:
C, G
Genomic location hg(0)
14:55313816 (not available on ExAC)
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).