cDNA level identifier (NM_007262):

c.317_322+5delGTGCAGGTGAC

Gene level identifier:

g.16668_16678delGTGCAGGTGAC

Archive identifier/Other designation:

p.Ala107_Gly108del

Reference, alternative allele:

TGTGCAGGTGAC, T

Genomic location hg(19)

1:8031017 (not available on ExAC)

Gene name:

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).