Protein level identifier (n.a.):
p.Ala15Profs*100
cDNA level identifier (n.a.):
c.43delG
Gene level identifier:
g.116delG
Reference, alternative allele:
GG, G
Genomic location hg(0)
2:73114603 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 homozygous (2 in total).