Mutation details:

Protein level identifier:

p.Arg458Trp

cDNA level identifier:

c.1372C>T

Genome level identifier:

g.31712C>T

Reference, alternative allele:

G, A

Genetic location (hg19):

chr1:43392819 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

33

Positive functional evidence:

23280796; 25564316

Diseases reported for this mutation:

PxMD-SLC2A1

Number of all included cases:

4 heterozygous (4 in total).

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