Mutation details:

Protein level identifier (NP_006507):

p.Arg223Pro

cDNA level identifier (NM_006516):

c.668G>C

Gene level identifier:

g.28976G>C

Reference, alternative allele:

C, G

Genomic location hg(19)

1:43395555 (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:

3 heterozygous (3 in total).

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