Protein level identifier (NP_006507):
p.Ser324Leu
cDNA level identifier (NM_006516):
c.971C>T
Gene level identifier:
g.29649C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
1:43394882 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).