Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs144596211

SYNE2

rs144596211 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE2. Location: chromosome 14, position 64,547,323. 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
14:64547323
Cytoband
14q23.2
HGVS
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His)
Allele change
Missense_Q3771H

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.