Protein level identifier (NP_115785):
p.Gly163Valfs*22
cDNA level identifier (NM_032409):
c.488delG
Gene level identifier:
g.4488delG
Reference, alternative allele:
GG, G
Genomic location hg(0)
1:20964434 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Not available
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).