Protein level identifier (NP_055542):
p.Arg564*
cDNA level identifier (NM_014727):
c.1690C>T
Gene level identifier:
g.3019C>T
Reference, alternative allele:
C, T
Genomic location hg(0)
19:36211939 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).