Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs143070183

SYNE1

rs143070183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,674,464. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SYNE1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
6:152674464
Cytoband
6q25.2
HGVS
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)
Allele change
Missense_K3714N

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.