Variant (rsID / SNP)

rs140780725

rs140780725 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,763,368. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SYNE1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:152763368
Cytoband: 6q25.2
HGVS: NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)
Allele change: Missense_R1291W

Associated conditions / phenotypes

Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type

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.