Protein level identifier (NP_001073136):
p.Leu206Val
cDNA level identifier (NM_001079668):
c.616C>G
Gene level identifier:
g.3282C>G
Archive identifier/Other designation:
c.526C>G
Reference, alternative allele:
G, C
Genomic location hg(19)
14:36987073 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).