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Variant (rsID / SNP)

rs769943554

SLC2A1

rs769943554 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,394,643. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC2A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:43394643
Cytoband
1p34.2
HGVS
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
Allele change
Missense_A345V

Associated conditions / phenotypes

Dystonia 9|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.