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Variant (rsID / SNP)

rs201138253

TMEM43

rs201138253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43. Location: chromosome 3, position 14,177,328. 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
3:14177328
Cytoband
3p25.1
HGVS
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)
Allele change
Missense_R268W

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 5|Cardiomyopathy

Public references

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