Mutation details:

Protein level identifier (NP_006507):

p.Ser294Val

cDNA level identifier (NM_006516):

c.880_881delinsGT

Gene level identifier:

g.29558_29559delinsGT

Archive identifier/Other designation:

c.[880T>G (+) 881C>T]

Reference, alternative allele:

GGA, GAC

Genomic location hg(19)

1:43394971 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

in frame indel

Pathogenicity scoring:

Possibly pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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