Protein level identifier (n.a.):
p.Ser243Alafs*19
cDNA level identifier (n.a.):
c.727_737del11
Gene level identifier:
g.51072_51082del11
Reference, alternative allele:
TAGTAATTCACT, T
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).