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Variant (rsID / SNP)

rs267607207

LAMB2

rs267607207 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB2. Location: chromosome 3, position 49,160,649. 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
3:49160649
Cytoband
3p21.31
HGVS
NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys)
Allele change
Missense_N1380K

Associated conditions / phenotypes

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

Public references

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