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Variant (rsID / SNP)

rs142993240

AGPAT2

rs142993240 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGPAT2. Location: chromosome 9, position 139,571,430. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AGPAT2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:139571430
Cytoband
9q34.3
HGVS
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys)
Allele change
Missense_R159C

Associated conditions / phenotypes

Monogenic diabetes|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.