Variant (rsID / SNP)

rs267607577

rs267607577 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,106,142. Clinical significance in the table: Pathogenic.

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Reference-table entries

LMNAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 1:156106142
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs)

Associated conditions / phenotypes

Cardiomyopathy|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2

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.