Protein level identifier (NP_055542):
p.Arg1705Gln
cDNA level identifier (NM_014727):
c.5114G>A
Gene level identifier:
g.12360G>A
Reference, alternative allele:
G, A
Genomic location hg(0)
19:36221280 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).