Protein level identifier (NP_115785):
p.Gly408Alafs*6
cDNA level identifier (NM_032409):
c.1223delG
Gene level identifier:
g.15150delG
Reference, alternative allele:
GG, G
Genomic location hg(0)
1:20975096 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Not available
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).