Variant (rsID / SNP)

rs148523165

rs148523165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHODH. Location: chromosome 16, position 72,055,078. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DHODHBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:72055078
Cytoband: 16q22.2
HGVS: NM_001361.5(DHODH):c.573G>A (p.Ala191=)
Allele change: Synonymous_A191A

Associated conditions / phenotypes

Miller syndrome

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.