Mutation details:

Protein level identifier:

p.Gly91Ala

cDNA level identifier:

c.272G>C

Genome level identifier:

g.27811G>C

Reference, alternative allele:

C, G

Genetic location (hg19):

chr1:43396720 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

28

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-SLC2A1

Number of all included cases:

2 heterozygous (2 in total).

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