Protein level identifier (n.a.):

p.Leu180Profs*2

cDNA level identifier (n.a.):

c.539_593del

Gene level identifier:

g.37329_37383del

Reference, alternative allele:

GCGTTCAGGCGCTCTGGCTGCCACACATTTTTCACTGCGCCAAGAAAGTCTCCAAG, G

Genomic location hg(19)

Gene name:

Consequence:

frameshift deletion

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).