Variant (rsID / SNP)

rs371546359

rs371546359 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NFU1. Location: chromosome 2, position 69,646,738. Clinical significance in the table: Pathogenic.

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Reference-table entries

NFU1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:69646738
Cytoband: 2p13.3
HGVS: NM_001002755.4(NFU1):c.303-2A>T
Allele change: Silent

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.