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Variant (rsID / SNP)

rs138514054

SYNE2

rs138514054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE2. Location: chromosome 14, position 64,548,293. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SYNE2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:64548293
Cytoband
14q23.2
HGVS
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)
Allele change
Missense_V3827L

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.