Protein level identifier (n.a.):
p.Phe139*
cDNA level identifier (n.a.):
c.416_419delTTGA
Gene level identifier:
g.32838_32841delTTGA
Reference, alternative allele:
CTCAA, C
Genomic location hg(19)
Gene name:
Consequence:
frameshift deletion
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).