Protein level identifier (NP_006507):
p.Ser294Val
cDNA level identifier (NM_006516):
c.880_881delinsGT
Gene level identifier:
g.29558_29559delinsGT
Archive identifier/Other designation:
c.[880T>G (+) 881C>T]
Reference, alternative allele:
GGA, GAC
Genomic location hg(19)
1:43394971 (not available on ExAC)
Gene name:
Consequence:
in frame indel
Pathogenicity scoring:
Possibly pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).