Mutation details:

Protein level identifier:

p.Glu303del

cDNA level identifier:

c.907_909delGAG

Genome level identifier:

g.10071_10073delGAG

Archive identifier/Other designation:

GAG deletion

Reference, alternative allele:

TCTC, T

Genetic location (hg19):

chr9:132576340

Gene name:

TOR1A

Consequence:

in frame indel

Pathogenicity scoring:

definitely pathogenic

CADD score:

23

Positive functional evidence:

;; etc.; 15505207; 18552369;; 24930953; 24931141;

Number of all included cases:

651 heterozygous (651 in total).

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