Protein level identifier (NP_065753):
p.Ile656Thr
cDNA level identifier (NM_020702):
c.1967T>C
Gene level identifier:
g.5874A>G
Archive identifier/Other designation:
c.1694A>G; p.Ile655Thr
Reference, alternative allele:
A, G
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:
3 homozygous (3 in total).