Protein level identifier (n.a.):
p.Cys238Alafs*21
cDNA level identifier (n.a.):
c.712delT
Gene level identifier:
g.754448delT
Archive identifier/Other designation:
c.712delT
Reference, alternative allele:
CA, C
Genomic location hg(19)
6:162394355 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).