Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141170182

SYNE1

rs141170182 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,542,605. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SYNE1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:152542605
Cytoband
6q25.2
HGVS
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)
Allele change
Synonymous_P7133P

Associated conditions / phenotypes

Emery-Dreifuss muscular dystrophy|Cerebellar ataxia|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.