Mutation details:

Protein level identifier (NP_006507):

p.Ser324Leu

cDNA level identifier (NM_006516):

c.971C>T

Gene level identifier:

g.29649C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

1:43394882 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).