Protein level identifier (n.a.):
p.Arg479Serfs*8
cDNA level identifier (n.a.):
c.1437_1438delAG
Gene level identifier:
g.73522_73523delAG
Reference, alternative allele:
GAG, G
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).