Variant (rsID / SNP)

rs214950

rs214950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,708,310. Clinical significance in the table: Benign.

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Reference-table entries

SYNE1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:152708310
Cytoband: 6q25.2
HGVS: NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val)
Allele change: Missense_A2802V

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

dbSNP
ClinVar
Ensembl
gnomAD

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