Variant (rsID / SNP)

rs199827801

rs199827801 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,652,051. Clinical significance in the table: Likely benign.

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Reference-table entries

SYNE1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:152652051
Cytoband: 6q25.2
HGVS: NM_182961.4(SYNE1):c.13769A>G (p.Asn4590Ser)
Allele change: Missense_N4519S

Associated conditions / phenotypes

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.