Protein level identifier (NP_115785):
p.Asp297Metfs*22
cDNA level identifier (NM_032409):
c.889delG
Gene level identifier:
g.11148delG
Reference, alternative allele:
TG, T
Genomic location hg(0)
1:20971094 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Not available
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
6 homozygous (6 in total).