Variant (rsID / SNP)

rs886063722

rs886063722 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGPAT2. Location: chromosome 9, position 139,571,570. Clinical significance in the table: Uncertain significance.

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Reference-table entries

AGPAT2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:139571570
Cytoband: 9q34.3
HGVS: NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu)
Allele change: Missense_P112L

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.