Mutation details:

Protein level identifier:

p.Ile390del

cDNA level identifier:

c.1168_1170delATC

Genome level identifier:

g.31145_31147delATC

Reference, alternative allele:

CGAT, C

Genetic location (hg19):

chr1:43393383 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

in frame indel

Pathogenicity scoring:

possibly pathogenic

CADD score:

18

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-SLC2A1

Number of all included cases:

1 heterozygous (1 in total).

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