Protein level identifier (NP_060575):
p.Ala7Glufs*23
cDNA level identifier (NM_018105):
c.20_33del
Gene level identifier:
g.251_264del
Reference, alternative allele:
TCTTGCAGCCGTAGG, T
Genomic location hg(19)
8:42698204 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).