cDNA level identifier (n.a.):

c.-71C>T

Gene level identifier:

g.21C>T

Archive identifier/Other designation:

promoter region variant ( new initiation codon)

Reference, alternative allele:

G, A

Genomic location hg(0)

11:2193087 (not available on ExAC)

Gene name:

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 4 compound heterozygous (5 in total).