Mutation details:

Protein level identifier (NP_006507):

p.Ser148Leu

cDNA level identifier (NM_006516):

c.443C>T

Gene level identifier:

g.28161C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

1:43396370 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).