Protein level identifier (NP_115785):
p.Gln534_Ser535insGln
cDNA level identifier (NM_032409):
c.1602_1603insCAA
Gene level identifier:
g.17093_17094insCAA
Reference, alternative allele:
A, ACAA
Genomic location hg(19)
1:20977040 (not available on ExAC)
Gene name:
Consequence:
in frame indel
Pathogenicity scoring:
Possibly pathogenic
CADD score:
13
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).