Variant (rsID / SNP)
rs200067423
rs200067423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKIC3, TTC37. Location: chromosome 5, position 94,803,683. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SKIC3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:94803683
- Cytoband
- 5q15
- HGVS
- NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)
- Allele change
- Missense_R1503C
Associated conditions / phenotypes
Trichohepatoenteric syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.