Variant (rsID / SNP)

rs201763096

rs201763096 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEXN. Location: chromosome 1, position 78,395,131. 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: 1:78395131
Cytoband: 1p31.1
HGVS: NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)
Allele change: Missense_E332A

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 20|Dilated cardiomyopathy 1CC|Cardiovascular phenotype|Cardiomyopathy|Premature ventricular contraction

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.