cDNA level identifier (NM_014727):

c.1-1292049_*321+432057del

Gene level identifier:

g.1-1292049_20859+432057del

Archive identifier/Other designation:

1.7 Mb deletion at 19q13.11-q13.12, proximal breakpoint located

Reference, alternative allele:

G+1744964, 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).