Protein level identifier (n.a.):
P.Arg115Serfs*43
cDNA level identifier (n.a.):
c.343_352del10
Gene level identifier:
g.564_573del10
Reference, alternative allele:
GCGCGTCCGAG, G
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).