Variant (rsID / SNP)

rs193922706

rs193922706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43. Location: chromosome 3, position 14,183,242. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TMEM43Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:14183242
Cytoband: 3p25.1
HGVS: NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)
Allele change: Missense_L384V

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 5|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.