Mutation details:

Protein level identifier (NP_006507):

p.Gly91Ala

cDNA level identifier (NM_006516):

c.272G>C

Gene level identifier:

g.27811G>C

Reference, alternative allele:

C, G

Genomic location hg(19)

1:43396720 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).