Protein level identifier (n.a.):
p.Cys1417fs*10
cDNA level identifier (n.a.):
c.4249_4253+2delTGTCGGT
Gene level identifier:
g.362537_362543delTGTCGGT
Reference, alternative allele:
CACCGACA, 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:
2 heterozygous (2 in total).