Variant (rsID / SNP)

rs143105288

rs143105288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OGDHL. Location: chromosome 10, position 50,947,825. Clinical significance in the table: Likely benign.

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Reference-table entries

OGDHLLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:50947825
Cytoband: 10q11.23
HGVS: NM_018245.3(OGDHL):c.2201T>C (p.Phe734Ser)
Allele change: Missense_F335S

Associated conditions / phenotypes

Inborn genetic diseases

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.