Protein level identifier (NP_006740):
p.Ser637Arg
cDNA level identifier (NM_006749):
c.1909A>C
Gene level identifier:
g.121699A>C
Archive identifier/Other designation:
p.S637R
Reference, alternative allele:
T, G
Genomic location hg(19)
8:42275371 (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:
4 heterozygous (4 in total).