Variant (rsID / SNP)

rs1166698

rs1166698 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEXN. Location: chromosome 1, position 78,392,446. Clinical significance in the table: Benign.

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Reference-table entries

NEXNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:78392446
Cytoband: 1p31.1
HGVS: NM_144573.4(NEXN):c.733G>A (p.Gly245Arg)
Allele change: Missense_G245R

Associated conditions / phenotypes

Cardiovascular phenotype|Hypertrophic cardiomyopathy 20|Dilated cardiomyopathy 1CC

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.