Mutation details:

Protein level identifier (NP_006507):

p.Ser95Ile

cDNA level identifier (NM_006516):

c.283_284delinsAT

Genome level identifier:

g.28001_28002delinsAT

Reference, alternative allele:

TGA, TAT

Genetic location hg(19)

(not available on ExAC)

Gene name:

SLC2A1

Consequence:

in frame indel

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Positive functional evidence:

18577546;

Number of all included cases:

16 heterozygous (16 in total).

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