Mutation details:

Protein level identifier (NP_000104):

p.Ala14_Pro15del

cDNA level identifier (NM_000113):

c.40_45delGCGCCG

Gene level identifier:

g.89_94delGCGCCG

Reference, alternative allele:

ACGGCGC, A

Genomic location hg(19)

9:132586319 (not available on ExAC)

Gene name:

TOR1A

Consequence:

in frame indel

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

24931141;

Number of all included cases:

1 heterozygous (1 in total).