Variant (rsID / SNP)

rs114026215

rs114026215 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43. Location: chromosome 3, position 14,174,454. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TMEM43Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:14174454
Cytoband: 3p25.1
HGVS: NM_024334.3(TMEM43):c.512+19G>T
Allele change: Silent

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 5

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.