Protein level identifier (NP_006740):
p.Ser508Asn
cDNA level identifier (NM_006749):
c.1523G>A
Gene level identifier:
g.102563G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
8:42294507 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).