Variant (rsID / SNP)

rs2070607

rs2070607 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OGDH. Location: chromosome 7, position 44,747,578. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

OGDHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:44747578
Cytoband: 7p13
HGVS: NM_002541.4(OGDH):c.3052G>A (p.Val1018Ile)
Allele change: Missense_V1014I

Associated conditions / phenotypes

Oxoglutaricaciduria

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.