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Variant (rsID / SNP)

rs118187988

SYNE1

rs118187988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,457,795. 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
6:152457795
Cytoband
6q25.2
HGVS
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)
Allele change
Synonymous_E741E

Associated conditions / phenotypes

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

Public references

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