Mutation details:

Protein level identifier (NP_006507):

p.Thr60Met

cDNA level identifier (NM_006516):

c.179C>T

Gene level identifier:

g.27718C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

1:43396813

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

23280796;

Number of all included cases:

1 heterozygous (1 in total).

×