Protein level identifier (n.a.):
p.Gln473Argfs*10
cDNA level identifier (n.a.):
c.1418_1431del14
Gene level identifier:
g.73503_73516del14
Reference, alternative allele:
CAGTCTGCTGGAGAT, C
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).