Variant (rsID / SNP)
rs28941785
rs28941785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTH. Location: chromosome 1, position 70,881,670. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CTHConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:70881670
- Cytoband
- 1p31.1
- HGVS
- NM_001902.6(CTH):c.200C>T (p.Thr67Ile)
- Allele change
- Missense_T67I
Associated conditions / phenotypes
Cystathioninuria
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.