Protein level identifier (n.a.):

p.Pro113Thrfs*51

cDNA level identifier (n.a.):

c.337_376delCCAGGAGACTCTGTGGGGCTGGCTGTCATTCTGCACACTG

Gene level identifier:

g.465172_465211delCCAGGAGACTCTGTGGGGCTGGCTGTCATTCTGCACACTG

Archive identifier/Other designation:

40bp deletion in exon 3, c.438-477del

Reference, alternative allele:

TCAGTGTGCAGAATGACAGCCAGCCCCACAGAGTCTCCTGG, T

Genomic location hg(19)

6:162683592 (not available on ExAC)

Gene name:

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

14 homozygous, 38 compound heterozygous (52 in total).