Variant (rsID / SNP)
rs141619735
rs141619735 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,394,661. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:43394661
- Cytoband
- 1p34.2
- HGVS
- NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
- Allele change
- Missense_I339T
Associated conditions / phenotypes
Hereditary cryohydrocytosis with reduced stomatin|History of neurodevelopmental disorder|Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2|Dystonia 9|Epilepsy, idiopathic generalized, susceptibility to, 12|Hereditary cryohydrocytosis with reduced stomatin|GLUT1 deficiency syndrome 1, autosomal recessive|Epilepsy, idiopathic generalized, susceptibility to, 12
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.