Variant (rsID / SNP)

rs201171783

rs201171783 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEXN. Location: chromosome 1, position 78,392,445. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NEXNBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:78392445
Cytoband: 1p31.1
HGVS: NM_144573.4(NEXN):c.732C>A (p.Pro244=)
Allele change: Synonymous_P244P

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 20|Dilated cardiomyopathy 1CC|Cardiovascular phenotype|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.