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Variant (rsID / SNP)

rs145619906

TMEM43

rs145619906 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43. Location: chromosome 3, position 14,174,077. 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
3:14174077
Cytoband
3p25.1
HGVS
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
Allele change
Missense_E142K

Associated conditions / phenotypes

Cardiovascular phenotype|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.