Variant (rsID / SNP)
rs515726205
rs515726205 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C19ORF12, C19orf12. Location: chromosome 19, position 30,193,873. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
C19ORF12Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:30193873
- Cytoband
- 19q12
- HGVS
- NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)
- Allele change
- Silent
Associated conditions / phenotypes
Neurodegeneration with brain iron accumulation 4|Adult-onset night blindness|Peripheral visual field loss|Dystonic disorder|Tremor|Mental deterioration|Hereditary spastic paraplegia 43|Pigmentary pallidal degeneration
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.