Protein level identifier (NP_003681):
p.Cys213Phe
cDNA level identifier (NM_003690):
c.638G>T
Gene level identifier:
g.15222G>T
Reference, alternative allele:
C, A
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).