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Variant (rsID / SNP)

rs144811578

TMEM43

rs144811578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43. Location: chromosome 3, position 14,172,430. 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
3:14172430
Cytoband
3p25.1
HGVS
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
Allele change
Missense_I91V

Associated conditions / phenotypes

Emery-Dreifuss muscular dystrophy 7, autosomal dominant|Arrhythmogenic right ventricular dysplasia 5|Cardiovascular phenotype|Cardiomyopathy

Public references

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