Protein level identifier (NP_004163):
p.Met128Arg
cDNA level identifier (NM_004172):
c.383T>G
Gene level identifier:
g.64738T>G
Archive identifier/Other designation:
M128R
Reference, alternative allele:
T, G
Genomic location hg(19)
5:36671194 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).