Variant (rsID / SNP)

rs74637005

rs74637005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NFU1. Location: chromosome 2, position 69,650,730. Clinical significance in the table: Benign.

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Reference-table entries

NFU1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:69650730
Cytoband: 2p13.3
HGVS: NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys)
Allele change: Silent

Associated conditions / phenotypes

Multiple mitochondrial dysfunctions syndrome 1

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.