Variant (rsID / SNP)

rs606231134

rs606231134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,643,033. Clinical significance in the table: Pathogenic.

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Reference-table entries

SYNE1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:152643033
Cytoband: 6q25.2
HGVS: NM_182961.4(SYNE1):c.15918-12A>G
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive ataxia, Beauce type|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.