Variant (rsID / SNP)

rs267607600

rs267607600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,106,710. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LMNALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:156106710
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.1381-2A>G
Allele change: Silent

Associated conditions / phenotypes

Congenital muscular dystrophy due to LMNA mutation

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.