Variant (rsID / SNP)
rs201697532
rs201697532 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A3. Location: chromosome 2, position 228,176,554. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COL4A3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:228176554
- Cytoband
- 2q36.3
- HGVS
- NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
- Allele change
- Missense_R1661C
Associated conditions / phenotypes
Autosomal recessive Alport syndrome|Autosomal dominant Alport syndrome|Alport syndrome|Autosomal dominant Alport syndrome|Autosomal recessive Alport syndrome|Benign familial hematuria
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.