Variant (rsID / SNP)
rs79677861
rs79677861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB2. Location: chromosome 3, position 49,161,830. Clinical significance in the table: Benign.
Reference-table entries
LAMB2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:49161830
- Cytoband
- 3p21.31
- HGVS
- NM_002292.4(LAMB2):c.3325G>A (p.Glu1109Lys)
- Allele change
- Missense_E1109K
Associated conditions / phenotypes
LAMB2-related infantile-onset nephrotic syndrome|Pierson 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.
