Variant (rsID / SNP)

rs183821298

rs183821298 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPIN2. Location: chromosome 18, position 2,921,592. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LPIN2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:2921592
Cytoband: 18p11.31
HGVS: NM_001375808.2(LPIN2):c.2381T>C (p.Ile794Thr)
Allele change: Missense_I794T

Associated conditions / phenotypes

Majeed 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.