Mutation details:

Protein level identifier (NP_006507):

p.Gln161Arg

cDNA level identifier (NM_006516):

c.482A>G

Gene level identifier:

g.28200A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

1:43396331 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).