Variant (rsID / SNP)

rs113626637

rs113626637 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to L2HGDH, DMAC2L. Location: chromosome 14, position 50,778,863. 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: 14:50778863
Cytoband: 14q21.3
HGVS: NM_024884.3(L2HGDH):c.6G>T (p.Val2=)
Allele change: Synonymous_V2V

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.