Protein level identifier (NP_001073136):
p.Gly268Argext*170
cDNA level identifier (NM_001079668):
c.802_803delGG
Gene level identifier:
g.3468_3469delGG
Archive identifier/Other designation:
p.Gly238ArgfsX170
Reference, alternative allele:
GCC, G
Genomic location hg(19)
14:36986885 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).