Protein level identifier (n.a.):
p.Ala96Argfs*65
cDNA level identifier (n.a.):
c.286delG
Gene level identifier:
g.507delG
Reference, alternative allele:
CG, C
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).