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Variant (rsID / SNP)

rs141716975

SYNE1

rs141716975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,469,204. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SYNE1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
6:152469204
Cytoband
6q25.2
HGVS
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
Allele change
Missense_L520F

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.