Mutation details:

Protein level identifier (NP_006507):

p.Val165Ile

cDNA level identifier (NM_006516):

c.493G>A

Gene level identifier:

g.28211G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

1:43396320 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

25564316;

Number of all included cases:

6 heterozygous (6 in total).

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