Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs372065024

NEXN

rs372065024 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEXN. Location: chromosome 1, position 78,392,121. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NEXNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:78392121
Cytoband
1p31.1
HGVS
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr)
Allele change
Missense_I171T

Associated conditions / phenotypes

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

Public references

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