Variant (rsID / SNP)

rs117070973

rs117070973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE2. Location: chromosome 14, position 64,653,146. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SYNE2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:64653146
Cytoband: 14q23.2
HGVS: NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro)
Allele change: Missense_L5854P

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.