Variant (rsID / SNP)

rs199976741

rs199976741 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE2. Location: chromosome 14, position 64,625,479. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SYNE2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:64625479
Cytoband: 14q23.2
HGVS: NM_182914.3(SYNE2):c.15929T>C (p.Leu5310Ser)
Allele change: Missense_L5310S

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.