Protein level identifier (NP_000104):
p.Glu303del
cDNA level identifier (NM_000113):
c.907_909delGAG
Gene level identifier:
g.10071_10073delGAG
Archive identifier/Other designation:
GAG deletion
Reference, alternative allele:
TCTC, T
Genomic location hg(19)
Gene name:
Consequence:
in frame indel
Pathogenicity scoring:
Definitely pathogenic
CADD score:
23
Number of all included cases:
680 heterozygous (680 in total).