Protein level identifier (NP_055542):
p.Gln810*
cDNA level identifier (NM_014727):
c.2428C>T
Gene level identifier:
g.3757C>T
Reference, alternative allele:
C, T
Genomic location hg(0)
19:36212677 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
37
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).