Protein level identifier (n.a.):
p.Leu175*
cDNA level identifier (n.a.):
c.524_531delTGGCCAGT
Gene level identifier:
g.37314_37321delTGGCCAGT
Reference, alternative allele:
CACTGGCCT, C
Genomic location hg(19)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).