Protein level identifier (n.a.):
p.Arg498Alafs*13
cDNA level identifier (n.a.):
c.1492_1493+2delAGGT
Gene level identifier:
g.73577_73580delAGGT
Reference, alternative allele:
CAGGT, C
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).