Protein level identifier (n.a.):
p.Asn127Lys
cDNA level identifier (n.a.):
c.381C>G
Gene level identifier:
g.1031C>G
Reference, alternative allele:
C, G
Genomic location hg(0)
2:73115519 (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 homozygous (1 in total).