Variant (rsID / SNP)

rs61729152

rs61729152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB2. Location: chromosome 3, position 49,166,460. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LAMB2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:49166460
Cytoband: 3p21.31
HGVS: NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln)
Allele change: Missense_R575Q

Associated conditions / phenotypes

Pierson syndrome|LAMB2-related infantile-onset nephrotic syndrome|LAMB2-related infantile-onset nephrotic syndrome|Pierson 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.