Protein level identifier (n.a.):
p.Lys188Asnfs*5
cDNA level identifier (n.a.):
c.564_576delAAATGTGTGGCAG
Gene level identifier:
g.37354_37366delAAATGTGTGGCAG
Reference, alternative allele:
GCTGCCACACATTT, G
Genomic location hg(19)
Gene name:
Consequence:
frameshift deletion
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).