Protein level identifier (NP_000152):
p.Ala208Glu
cDNA level identifier (NM_000161):
c.623C>A
Gene level identifier:
g.57082C>A
Reference, alternative allele:
G, T
Genomic location hg(0)
14:55312489 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).