Variant (rsID / SNP)

rs483353035

rs483353035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNRNPA1. Location: chromosome 12, position 54,677,730. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HNRNPA1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:54677730
Cytoband: 12q13.13
HGVS: NM_031157.4(HNRNPA1):c.1042T>C (p.Phe348Leu)
Allele change: Missense_F348L

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.