Protein level identifier (n.a.):
p.Leu560Trpfs*5
cDNA level identifier (n.a.):
c.1674delG
Gene level identifier:
g.71274delG
Reference, alternative allele:
GC, G
Genomic location hg(0)
22:38516833 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
3 compound heterozygous (3 in total).