Protein level identifier (n.a.):
p.Gly387Alafs*3
cDNA level identifier (n.a.):
c.1160_1170del11
Gene level identifier:
g.63399_63409del11
Reference, alternative allele:
GGGAAGACAATG, 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).