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Variant (rsID / SNP)

rs117360770

SYNE1

rs117360770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,697,692. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SYNE1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:152697692
Cytoband
6q25.2
HGVS
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
Allele change
Missense_L3057V

Associated conditions / phenotypes

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

Public references

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