Mutation details:

Protein level identifier (NP_006507):

p.Ser95Ile

cDNA level identifier (NM_006516):

c.283_284delinsAT

Gene level identifier:

g.28001_28002delinsAT

Reference, alternative allele:

TGA, TAT

Genomic location hg(19)

1:43396528 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

in frame indel

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

18577546;

Number of all included cases:

16 heterozygous (16 in total).