Variant (rsID / SNP)

rs483353037

rs483353037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNRNPA1. Location: chromosome 12, position 54,677,742. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HNRNPA1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:54677742
Cytoband: 12q13.13
HGVS: NM_031157.4(HNRNPA1):c.1054C>T (p.Arg352Ter)
Allele change: Nonsense_R352X

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.