Protein level identifier (NP_940980):
Ile2020Thr
cDNA level identifier (NM_198578):
c.6059T>C
Gene level identifier:
g.143661T>C
Archive identifier/Other designation:
I2020T
Reference, alternative allele:
T, C
Genomic location hg(19)
12:40734206 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
28
Phosphorylation activity:
Positive functional evidence:
Number of all included cases:
16 heterozygous (16 in total).