Protein level identifier (NP_071372):
p.Thr368Argfs*29
cDNA level identifier (NM_022089):
c.1101_1102dupGA
Gene level identifier:
g.14816_14817insGA
Reference, alternative allele:
G, GTC
Genomic location hg(0)
1:17323607 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
2 homozygous (2 in total).