Variant (rsID / SNP)

rs184210675

rs184210675 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,563,419. 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: 6:152563419
Cytoband: 6q25.2
HGVS: NM_182961.4(SYNE1):c.19849G>A (p.Val6617Met)
Allele change: Missense_V6546M

Associated conditions / phenotypes

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