Protein level identifier (NP_115785):
p.Lys24Glyfs*31
cDNA level identifier (NM_032409):
c.70_101del
Gene level identifier:
g.164_195del
Archive identifier/Other designation:
p.Lys24fsX54
Reference, alternative allele:
CAAGCCCGGCCGGGCCTACGGCTTGGGGCGGCC, C
Genomic location hg(19)
1:20960110 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
3 compound heterozygous (3 in total).