Variant (rsID / SNP)
rs121912553
rs121912553 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IMPDH1. Location: chromosome 7, position 128,040,882. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
IMPDH1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:128040882
- Cytoband
- 7q32.1
- HGVS
- NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)
- Allele change
- Missense_R105W
Associated conditions / phenotypes
Leber congenital amaurosis 11
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.