Protein level identifier (NP_006740):
p.Val624Glu
cDNA level identifier (NM_006749):
c.1871T>A
Gene level identifier:
g.121661T>A
Reference, alternative allele:
A, T
Genomic location hg(19)
8:42275409 (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).