cDNA level identifier (n.a.):
c.8-39T>G
Gene level identifier:
g.284260T>G
Archive identifier/Other designation:
IVS1-39G->T
Reference, alternative allele:
A, C
Genomic location hg(19)
6:162864544 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).