Variant (rsID / SNP)

rs116807569

rs116807569 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGPAT2. Location: chromosome 9, position 139,569,261. Clinical significance in the table: Pathogenic.

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Reference-table entries

AGPAT2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:139569261
Cytoband: 9q34.3
HGVS: NM_006412.4(AGPAT2):c.589-2A>G
Allele change: Silent

Associated conditions / phenotypes

Congenital generalized lipodystrophy type 1

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.