Variant (rsID / SNP)

rs138689053

rs138689053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE2. Location: chromosome 14, position 64,519,978. Clinical significance in the table: Benign.

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Reference-table entries

SYNE2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:64519978
Cytoband: 14q23.2
HGVS: NM_182914.3(SYNE2):c.9347A>G (p.Lys3116Arg)
Allele change: Missense_K3116R

Associated conditions / phenotypes

Emery-Dreifuss muscular dystrophy 5, 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.