Variant (rsID / SNP)
rs17555442
rs17555442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPIN2. Location: chromosome 18, position 2,922,149. Clinical significance in the table: Benign.
Reference-table entries
LPIN2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:2922149
- Cytoband
- 18p11.31
- HGVS
- NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=)
- Allele change
- Synonymous_A741A
Associated conditions / phenotypes
Majeed syndrome|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.