Mutation details:

Protein level identifier (NP_006507):

p.Ser324=

cDNA level identifier (NM_006516):

c.972G>A

Gene level identifier:

g.29650G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

1:43394881 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

silent

Pathogenicity scoring:

Possibly pathogenic

CADD score:

19

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).