Protein level identifier (n.a.):
p.Arg275Trp
cDNA level identifier (n.a.):
c.823C>T
Gene level identifier:
g.941952C>T
Archive identifier/Other designation:
c.924C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
8 homozygous, 74 compound heterozygous (82 in total).