Protein level identifier (NP_060676):
p.Arg524Trp
cDNA level identifier (NM_018206):
c.1570C>T
Gene level identifier:
g.20512C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
16:46702919 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
Number of all included cases:
1 heterozygous (1 in total).