Protein level identifier (NP_001073136):
p.Leu206Gln
cDNA level identifier (NM_001079668):
c.617T>A
Gene level identifier:
g.3283T>A
Reference, alternative allele:
A, T
Genomic location hg(19)
14:36987072 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
7 heterozygous (7 in total).