Mutation details:

Protein level identifier (NP_006507):

p.Arg333Trp

cDNA level identifier (NM_006516):

c.997C>T

Gene level identifier:

g.29851C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

1:43394680 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

21555602; 24789115;

Number of all included cases:

3 heterozygous (3 in total).

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