Variant (rsID / SNP)

rs200971467

rs200971467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE2. Location: chromosome 14, position 64,681,059. Clinical significance in the table: Likely benign.

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Reference-table entries

SYNE2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:64681059
Cytoband: 14q23.2
HGVS: NM_182914.3(SYNE2):c.19204G>A (p.Glu6402Lys)
Allele change: Missense_E6402K

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.