Variant (rsID / SNP)

rs144555528

rs144555528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPIN2. Location: chromosome 18, position 2,940,693. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LPIN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:2940693
Cytoband: 18p11.31
HGVS: NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe)
Allele change: Missense_S203F

Associated conditions / phenotypes

Majeed syndrome|Autoinflammatory syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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