Protein level identifier (NP_115785):
p.Lys520Argfs*3
cDNA level identifier (NM_032409):
c.1557delG
Gene level identifier:
g.17048delG
Archive identifier/Other designation:
p.L519fsX522
Reference, alternative allele:
TG, T
Genomic location hg(19)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
2 homozygous (2 in total).