Variant (rsID / SNP)

rs200658738

rs200658738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB2. Location: chromosome 3, position 49,163,508. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LAMB2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:49163508
Cytoband: 3p21.31
HGVS: NM_002292.4(LAMB2):c.2236C>T (p.Arg746Cys)
Allele change: Missense_R746C

Associated conditions / phenotypes

Pierson syndrome|LAMB2-related infantile-onset 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.