Variant (rsID / SNP)
rs145588689
rs145588689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAR. Location: chromosome 1, position 154,574,541. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ADARConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:154574541
- Cytoband
- 1q21.3
- HGVS
- NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
- Allele change
- Missense_P193A
Associated conditions / phenotypes
Aicardi-Goutieres syndrome 6|Symmetrical dyschromatosis of extremities|Aicardi Goutieres syndrome|Symmetrical dyschromatosis of extremities|Aicardi-Goutieres syndrome 6|Inborn genetic diseases|ADAR-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.