Protein level identifier (NP_001243371):

p.Arg217Profs*8

cDNA level identifier (NM_001256442):

c.649dupC

Gene level identifier:

g.1848dupC

Archive identifier/Other designation:

c.insC649

Reference, alternative allele:

G, GC

Genomic location hg(19)

Gene name:

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

Number of all included cases:

5 homozygous, 608 heterozygous, 1 compound heterozygous (614 in total).