Variant (rsID / SNP)
rs3213673
rs3213673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLD, LAMB1. Location: chromosome 7, position 107,564,539. Clinical significance in the table: Benign.
Reference-table entries
DLDBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:107564539
- Cytoband
- 7q31.1
- HGVS
- NM_002291.3(LAMB1):c.5225-7C>T
- Allele change
- Silent
Associated conditions / phenotypes
Maple syrup urine disease|Pyruvate dehydrogenase complex deficiency|Leigh syndrome|Cobblestone lissencephaly without muscular or ocular involvement
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.