Variant (rsID / SNP)

rs483353034

rs483353034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNRNPA1. Location: chromosome 12, position 54,677,728. 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: 12:54677728
Cytoband: 12q13.13
HGVS: NM_031157.4(HNRNPA1):c.1040A>G (p.Tyr347Cys)
Allele change: Missense_Y347C

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.