cDNA level identifier (n.a.):
c.1092_1098+1delGCCTGAGG
Gene level identifier:
g.52596_52603delGCCTGAGG
Reference, alternative allele:
GGCCTGAGG, G
Genomic location
not available
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).