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Variant (rsID / SNP)

rs148492034

SYNE2

rs148492034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE2. Location: chromosome 14, position 64,630,225. 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
14:64630225
Cytoband
14q23.2
HGVS
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr)
Allele change
Missense_P5469T

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.