Protein level identifier (NP_001073136):
p.Gly303Valfs*78
cDNA level identifier (NM_001079668):
c.908delG
Gene level identifier:
g.3574delG
Reference, alternative allele:
AC, A
Genomic location hg(19)
14:36986780 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).