Variant (rsID / SNP)

rs397514044

rs397514044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM43. Location: chromosome 3, position 14,172,412. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TMEM43Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:14172412
Cytoband: 3p25.1
HGVS: NM_024334.3(TMEM43):c.253G>A (p.Glu85Lys)
Allele change: Missense_E85K

Associated conditions / phenotypes

Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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