cDNA level identifier (NM_014727):

c.1-3005286_*321+1879211del

Gene level identifier:

g.1-3005286_20859+1879211del

Archive identifier/Other designation:

4.6 Mb deletion at the long arm of chromosome 19, 19q13.11q13.12

Reference, alternative allele:

G+4905356, G

Genomic location hg(0)

19:null (not available on ExAC)

Gene name:

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).