Mutation details:

Protein level identifier (NP_006507):

p.Phe263Leu*117

cDNA level identifier (NM_006516):

c.789_790delCC

Gene level identifier:

g.29189_29190delCC

Reference, alternative allele:

CGG, C

Genomic location hg(19)

1:43395340 (not available on ExAC)

Gene name:

SLC2A1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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