Mutation details:

Protein level identifier (NP_006507):

p.Ala275Thr

cDNA level identifier (NM_006516):

c.823G>A

Gene level identifier:

g.29223G>A

Archive identifier/Other designation:

c.1002G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

1:43395308 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Positive functional evidence:

18451999;

Number of all included cases:

5 heterozygous (5 in total).

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