Protein level identifier (n.a.):

p.Gln34Argfs*5

cDNA level identifier (n.a.):

c.101_102delAG

Gene level identifier:

g.284392_284393delAG

Archive identifier/Other designation:

202_203delAG; Gln34/Stop37

Reference, alternative allele:

CCT, C

Genomic location hg(19)

Gene name:

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

16 homozygous, 27 compound heterozygous (43 in total).