Variant (rsID / SNP)
rs927344
rs927344 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC2. Location: chromosome 10, position 101,544,447. Clinical significance in the table: Benign.
Reference-table entries
ABCC2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- missense_variant
- Chromosome / position
- 10:101544447
- HGVS
- NM_000392.5,c.116A>T,p.Tyr39Phe
- Allele change
- Missense_Y39F
Associated conditions / phenotypes
Dubin-Johnson Syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.