Variant (rsID / SNP)

rs142923780

rs142923780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDH1. Location: chromosome 2, position 209,116,182. Clinical significance in the table: Likely benign.

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Reference-table entries

IDH1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:209116182
Cytoband: 2q34
HGVS: NM_005896.4(IDH1):c.94T>G (p.Phe32Val)
Allele change: Missense_F32V

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.