cDNA level identifier (n.a.):
c.232 +2T>C
Gene level identifier:
g.26493T>C
Archive identifier/Other designation:
IV2+2T>C
Reference, alternative allele:
A, G
Genomic location hg(19)
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:
5 heterozygous (5 in total).