Variant (rsID / SNP)

rs397517858

rs397517858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEXN. Location: chromosome 1, position 78,383,903. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NEXNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:78383903
Cytoband: 1p31.1
HGVS: NM_144573.4(NEXN):c.392A>G (p.Gln131Arg)
Allele change: Missense_Q131R

Associated conditions / phenotypes

Dilated cardiomyopathy 1CC|Hypertrophic cardiomyopathy 20

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.