Protein level identifier (n.a.):
p.Arg269Serfs* 14
cDNA level identifier (n.a.):
c.806_807insCAGA
Gene level identifier:
g.47416_47417insCAGA
Reference, alternative allele:
T, TTCTG
Genomic location hg(0)
15:62305256 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).