cDNA level identifier (n.a.):
c.619-1G>C
Gene level identifier:
g.754354G>C
Reference, alternative allele:
C, G
Genomic location hg(19)
6:162394450 (not available on ExAC)
Gene name:
Consequence:
splice site 1 3bp
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
3 compound heterozygous (3 in total).