Mutation details:

Protein level identifier (NP_000104):

p.Glu303del

cDNA level identifier (NM_000113):

c.907_909delGAG

Genome level identifier:

g.10071_10073delGAG

Archive identifier/Other designation:

GAG deletion

Reference, alternative allele:

TCTC, T

Genetic location hg(19)

9:132576340

Gene name:

TOR1A

Consequence:

in frame indel

Pathogenicity scoring:

Definitely pathogenic

CADD score:

23

Positive functional evidence:

15505207; 24930953;

Number of all included cases:

651 heterozygous (651 in total).

×