Protein level identifier (NP_001073136):
p.Gln319Profs*58
cDNA level identifier (NM_001079668):
c.956_973delinsCTACA
Gene level identifier:
g.3622_3639delinsCTACA
Archive identifier/Other designation:
p.Gln289ProfsX59
Reference, alternative allele:
TGCGCCTGGTGCTGCGCCT, TTGTAG
Genomic location hg(19)
14:36986715 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).