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Variant (rsID / SNP)

rs200738080

LAMB2

rs200738080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB2. Location: chromosome 3, position 49,165,978. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LAMB2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:49165978
Cytoband
3p21.31
HGVS
NM_002292.4(LAMB2):c.1931G>A (p.Arg644His)
Allele change
Missense_R644H

Associated conditions / phenotypes

Pierson syndrome|LAMB2-related infantile-onset nephrotic syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.