Variant (rsID / SNP)
rs1128501
rs1128501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB1. Location: chromosome 7, position 87,195,534. Clinical significance in the table: Pathogenic.
Reference-table entries
ABCB1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:87195534
- Cytoband
- 7q21.12
- HGVS
- NM_001348946.2(ABCB1):c.554G>T (p.Gly185Val)
- Allele change
- Missense_G185V
Associated conditions / phenotypes
Colchicine resistance
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.