Mutation details:

Protein level identifier (NP_006507):

p.Ile390del

cDNA level identifier (NM_006516):

c.1168_1170delATC

Gene level identifier:

g.31145_31147delATC

Reference, alternative allele:

CGAT, C

Genomic location hg(19)

1:43393383 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

in frame indel

Pathogenicity scoring:

Possibly pathogenic

CADD score:

18

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).