Protein level identifier (NP_001243371):
p.Val322Trpfs*15
cDNA level identifier (NM_001256442):
c.964delG
Gene level identifier:
g.2562delG
Reference, alternative allele:
TG, T
Genomic location hg(19)
16:29825736 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).