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Variant (rsID / SNP)

rs182351748

TMEM43

rs182351748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43. Location: chromosome 3, position 14,173,105. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TMEM43Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:14173105
Cytoband
3p25.1
HGVS
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
Allele change
Missense_V108A

Associated conditions / phenotypes

Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 5

Public references

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