Variant (rsID / SNP)

rs886044588

rs886044588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYNE1. Location: chromosome 6, position 152,652,760. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SYNE1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:152652760
Cytoband: 6q25.2
HGVS: NM_182961.4(SYNE1):c.13060C>T (p.Gln4354Ter)
Allele change: Nonsense_Q4283X

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.