cDNA level identifier (n.a.):

c.1286-3C>G

Gene level identifier:

g.1377558C>G

Archive identifier/Other designation:

1286-3G>C, IVS11-3G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

Gene name:

Consequence:

splice site 1 3bp

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 homozygous, 5 compound heterozygous (8 in total).