Protein level identifier (n.a.):
p.Lys1070Glufs*75
cDNA level identifier (n.a.):
c.3207_3208insG
Gene level identifier:
g.337139_337140insG
Reference, alternative allele:
T, TG
Genomic location hg(0)
not available
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Possibly pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).