Protein level identifier (NP_000152):
p.Ser77Profs*3
cDNA level identifier (NM_000161):
c.228delG
Gene level identifier:
g.417delG
Reference, alternative allele:
AC, A
Genomic location hg(0)
14:55369153 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).