Protein level identifier (NP_055542):
p.Gln1359*
cDNA level identifier (NM_014727):
c.4075C>T
Gene level identifier:
g.9208C>T
Reference, alternative allele:
C, T
Genomic location hg(0)
19:36218128 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
38
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).