Mutation details:

Protein level identifier (NP_006507):

p.Asn219Glnfs*18

cDNA level identifier (NM_006516):

c.654dupC

Gene level identifier:

g.28962dupC

Reference, alternative allele:

T, TG

Genomic location hg(19)

1:43395568 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).