Protein level identifier (NP_001073136):
p.Asp296Argext*142
cDNA level identifier (NM_001079668):
c.886_887delGA
Gene level identifier:
g.3552_3553delGA
Archive identifier/Other designation:
p.Asp266Argfs142X
Reference, alternative allele:
GTC, G
Genomic location hg(19)
14:36986801 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Definitely pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).