Variant (rsID / SNP)

rs145337558

rs145337558 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUN1. Location: chromosome 7, position 901,098. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SUN1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:901098
Cytoband: 7p22.3
HGVS: NM_001130965.3(SUN1):c.1861G>A (p.Gly621Ser)
Allele change: Missense_G518S

Associated conditions / phenotypes

Emery-Dreifuss muscular dystrophy

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.