Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs143578863

SYNE2

rs143578863 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE2. Location: chromosome 14, position 64,484,335. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SYNE2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:64484335
Cytoband
14q23.2
HGVS
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)
Allele change
Missense_Y1637C

Associated conditions / phenotypes

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Public references

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