Variant (rsID / SNP)

rs146879902

rs146879902 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,392,754. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC2A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:43392754
Cytoband: 1p34.2
HGVS: NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
Allele change: Synonymous_P479P

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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