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Variant (rsID / SNP)

rs80338807

LPIN2

rs80338807 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPIN2. Location: chromosome 18, position 2,922,171. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LPIN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:2922171
Cytoband
18p11.31
HGVS
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu)
Allele change
Missense_S734L

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.