Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs138994150

AGPAT2

rs138994150 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGPAT2. Location: chromosome 9, position 139,569,202. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

AGPAT2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:139569202
Cytoband
9q34.3
HGVS
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)
Allele change
Nonsense_K184X

Associated conditions / phenotypes

Congenital generalized lipodystrophy type 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.