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Variant (rsID / SNP)

rs61729458

LAMB2

rs61729458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB2. Location: chromosome 3, position 49,159,603. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LAMB2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
3:49159603
Cytoband
3p21.31
HGVS
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp)
Allele change
Missense_R1592W

Associated conditions / phenotypes

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