Mutation details:

Protein level identifier (NP_006507):

p.Arg92Trp

cDNA level identifier (NM_006516):

c.274C>T

Gene level identifier:

g.27813C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

1:43396718 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

25564316;

Number of all included cases:

2 heterozygous (2 in total).

×