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)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
14 homozygous, 38 compound heterozygous (52 in total).