Protein level identifier (NP_001073136):
p.Ala225Glyfs*4
cDNA level identifier (NM_001079668):
c.672_673dup
Gene level identifier:
g.3338_3339dup
Archive identifier/Other designation:
2595insGG
Reference, alternative allele:
G, GCC
Genomic location hg(19)
14:36987015 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).