Protein level identifier (n.a.):
p. Thr614Asnfs*16
cDNA level identifier (n.a.):
c.1841_1842delCC
Gene level identifier:
g.90876_90877delCC
Reference, alternative allele:
ACC, A
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).