Mutation details:

Protein level identifier:

p.Gln161Arg

cDNA level identifier:

c.482A>G

Genome level identifier:

g.28200A>G

Reference, alternative allele:

T, C

Genetic location (hg19):

chr1:43396331 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

possibly pathogenic

CADD score:

26

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-SLC2A1

Number of all included cases:

1 heterozygous (1 in total).

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