Variant (rsID / SNP)
rs397518483
rs397518483 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RARB. Location: chromosome 3, position 25,637,919. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
RARBPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:25637919
- Cytoband
- 3p24.2
- HGVS
- NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)
- Allele change
- Missense_R394S
Associated conditions / phenotypes
Microphthalmia, syndromic 12|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.