Variant (rsID / SNP)

rs878852983

rs878852983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LEMD2. Location: chromosome 6, position 33,756,856. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LEMD2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:33756856
Cytoband: 6p21.31
HGVS: NM_181336.4(LEMD2):c.38T>G (p.Leu13Arg)
Allele change: Silent

Associated conditions / phenotypes

Cataract 46 juvenile-onset

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.