Variant (rsID / SNP)

rs797044486

rs797044486 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,108,351. The table records no clinical significance for this variant.

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Reference-table entries

LMNANot classified

Variant type: single nucleotide variant
Chromosome / position: 1:156108351
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser)
Allele change: Missense_C591S

Associated conditions / phenotypes

Hutchinson-Gilford syndrome

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.