Variant (rsID / SNP)
rs301430
rs301430 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC1A1. Location: chromosome 9, position 4,576,680. Clinical significance in the table: Benign.
Reference-table entries
SLC1A1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:4576680
- Cytoband
- 9p24.2
- HGVS
- NM_004170.6(SLC1A1):c.1110T>C (p.Thr370=)
- Allele change
- Synonymous_T370T
Associated conditions / phenotypes
Dicarboxylic aminoaciduria
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.