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Variant (rsID / SNP)

rs139170018

SYNE1

rs139170018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,647,194. 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
6:152647194
Cytoband
6q25.2
HGVS
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)
Allele change
Missense_V5042I

Associated conditions / phenotypes

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