Variant (rsID / SNP)
rs483353029
rs483353029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNRNPA1. Location: chromosome 12, position 54,677,667. Clinical significance in the table: Likely pathogenic.
Reference-table entries
HNRNPA1Likely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:54677667
- Cytoband
- 12q13.13
- HGVS
- NM_031157.4(HNRNPA1):c.979C>T (p.Pro327Ser)
- Allele change
- Missense_P327S
Associated conditions / phenotypes
Chronic progressive multiple sclerosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.