Protein level identifier (n.a.):
p.Arg1346*
cDNA level identifier (n.a.):
c.4036C>T
Gene level identifier:
g.361201C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
40
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).