Protein level identifier (n.a.):
p.Lys211Asn
cDNA level identifier (n.a.):
c.633A>T
Gene level identifier:
g.754369A>T
Archive identifier/Other designation:
c.734A>T
Reference, alternative allele:
T, 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:
1 homozygous, 12 compound heterozygous (13 in total).