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Variant (rsID / SNP)

rs189734757

SYNE1

rs189734757 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,730,315. 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
6:152730315
Cytoband
6q25.2
HGVS
NM_182961.4(SYNE1):c.6428A>G (p.Asp2143Gly)
Allele change
Missense_D2150G

Associated conditions / phenotypes

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.