Variant (rsID / SNP)

rs121912488

rs121912488 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB2. Location: chromosome 3, position 49,168,562. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

LAMB2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:49168562
Cytoband: 3p21.31
HGVS: NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)
Allele change: Missense_R246W

Associated conditions / phenotypes

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