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Variant (rsID / SNP)

rs11924644

TMEM43

rs11924644 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43. Location: chromosome 3, position 14,180,750. 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
3:14180750
Cytoband
3p25.1
HGVS
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val)
Allele change
Missense_A318V

Associated conditions / phenotypes

Cardiovascular phenotype|Cardiomyopathy|Sudden cardiac arrest|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.