Protein level identifier (n.a.):
p.Ser245Hisfs*10
cDNA level identifier (n.a.):
c.732_733insCA
Gene level identifier:
g.51077_51078insCA
Reference, alternative allele:
T, TCA
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
4 compound heterozygous (4 in total).