Mutation details:

Protein level identifier (NP_006507):

p.Thr137Ala

cDNA level identifier (NM_006516):

c.409A>G

Gene level identifier:

g.28127A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

1:43396404 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).

×