Mutation details:

Protein level identifier:

p.Ser324Leu

cDNA level identifier:

c.971C>T

Genome level identifier:

g.29649C>T

Reference, alternative allele:

G, A

Genetic location (hg19):

chr1:43394882 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

34

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-SLC2A1

Number of all included cases:

5 heterozygous (5 in total).

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