Protein level identifier (n.a.):
p.Thr151Glyfs*2
cDNA level identifier (n.a.):
c.448_452delAGAAC
Gene level identifier:
g.1098_1102delAGAAC
Reference, alternative allele:
CAGAAC, C
Genomic location hg(0)
2:73115585 (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).