Variant (rsID / SNP)

rs201947120

rs201947120 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHODH. Location: chromosome 16, position 72,057,435. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DHODHLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:72057435
Cytoband: 16q22.2
HGVS: NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)
Allele change: Missense_R346W

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.