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Variant (rsID / SNP)

rs146245480

NEXN

rs146245480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEXN. Location: chromosome 1, position 78,392,548. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NEXNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:78392548
Cytoband
1p31.1
HGVS
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)
Allele change
Missense_R279C

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 20|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 20|Dilated cardiomyopathy 1CC|Cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.