Protein level identifier (n.a.):
p.Gln681Argfs*100
cDNA level identifier (n.a.):
c.2042_2043delAG
Gene level identifier:
g.320159_320160delAG
Reference, alternative allele:
CCT, C
Genomic location hg(0)
not available
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous, 1 n.a. (5 in total).