Mutation details:

Protein level identifier:

p.Gln37*

cDNA level identifier:

c.109C>T

Genome level identifier:

g.15629C>T

Reference, alternative allele:

G, A

Genetic location (hg19):

chr1:43408902 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

38

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-SLC2A1

Number of all included cases:

1 heterozygous (1 in total).

×