Variant (rsID / SNP)

rs142816010

rs142816010 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDH2. Location: chromosome 15, position 90,631,596. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

IDH2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:90631596
Cytoband: 15q26.1
HGVS: NM_002168.4(IDH2):c.673G>A (p.Asp225Asn)
Allele change: Missense_D225N

Associated conditions / phenotypes

D-2-hydroxyglutaric aciduria 2

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.