Mutation details:

Protein level identifier:

p.Val165Ile

cDNA level identifier:

c.493G>A

Genome level identifier:

g.28211G>A

Reference, alternative allele:

C, T

Genetic location (hg19):

chr1:43396320 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

25

Positive functional evidence:

25564316

Diseases reported for this mutation:

PxMD-SLC2A1

Number of all included cases:

6 heterozygous (6 in total).

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