Variant (rsID / SNP)

rs483353031

rs483353031 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNRNPA1. Location: chromosome 12, position 54,677,685. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HNRNPA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:54677685
Cytoband: 12q13.13
HGVS: NM_031157.4(HNRNPA1):c.997T>C (p.Phe333Leu)
Allele change: Missense_F333L

Associated conditions / phenotypes

Chronic progressive multiple sclerosis

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.