Protein level identifier (NP_115785):

p.Leu485_Arg497del

cDNA level identifier (NM_032409):

c.1488+1G>A

Gene level identifier:

g.15778G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

1:20975725 (not available on ExAC)

Gene name:

Consequence:

splice site 1 3bp

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 5 compound heterozygous (6 in total).