Variant (rsID / SNP)

rs201447781

rs201447781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEXN. Location: chromosome 1, position 78,392,222. 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: 1:78392222
Cytoband: 1p31.1
HGVS: NM_144573.4(NEXN):c.613G>A (p.Glu205Lys)
Allele change: Missense_E205K

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 20|Dilated cardiomyopathy 1CC|Cardiomyopathy

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.