Protein level identifier (n.a.):
p.Ile592Metfs*37
cDNA level identifier (n.a.):
c.1776_1780delAAAAC
Gene level identifier:
g.90811_90815delAAAAC
Reference, alternative allele:
TAAAAC, T
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).