Protein level identifier (n.a.):
p.Val1350Leu
cDNA level identifier (n.a.):
c.4048G>T
Gene level identifier:
g.361213G>T
Reference, alternative allele:
C, A
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).