Variant (rsID / SNP)

rs11628107

rs11628107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE2. Location: chromosome 14, position 64,518,321. Clinical significance in the table: Benign.

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Reference-table entries

SYNE2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:64518321
Cytoband: 14q23.2
HGVS: NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val)
Allele change: Missense_I2564V

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.