Mutation details:

Protein level identifier:

p.Ser148Leu

cDNA level identifier:

c.443C>T

Genome level identifier:

g.28161C>T

Reference, alternative allele:

G, A

Genetic location (hg19):

chr1:43396370 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

missense

Pathogenicity scoring:

possibly pathogenic

CADD score:

32

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-SLC2A1

Number of all included cases:

1 heterozygous (1 in total).

×