Variant (rsID / SNP)

rs115954396

rs115954396 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to L2HGDH. Location: chromosome 14, position 50,732,172. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

L2HGDHBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:50732172
Cytoband: 14q21.3
HGVS: NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys)
Allele change: Missense_Y367C

Associated conditions / phenotypes

L-2-hydroxyglutaric aciduria

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.