Mutation details:

Protein level identifier:

p.Tyr449*

cDNA level identifier:

c.1347C>A

Genome level identifier:

g.31687C>A

Reference, alternative allele:

G, T

Genetic location (hg19):

chr1:43392844 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

46

Positive functional evidence:

24789115

Diseases reported for this mutation:

PxMD-SLC2A1

Number of all included cases:

1 heterozygous (1 in total).

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