Variant (rsID / SNP)

rs104895501

rs104895501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPIN2. Location: chromosome 18, position 2,937,699. 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: 18:2937699
Cytoband: 18p11.31
HGVS: NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu)
Allele change: Missense_K387E

Associated conditions / phenotypes

Majeed syndrome|Psoriasis|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.