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Variant (rsID / SNP)

rs113449357

TMEM43

rs113449357 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43. Location: chromosome 3, position 14,180,731. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TMEM43Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
3:14180731
Cytoband
3p25.1
HGVS
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
Allele change
Missense_R312W

Associated conditions / phenotypes

Cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular 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.