Variant (rsID / SNP)
rs139078985
rs139078985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATR. Location: chromosome 3, position 142,257,407. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ATRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:142257407
- Cytoband
- 3q23
- HGVS
- NM_001184.4(ATR):c.3642T>C (p.His1214=)
- Allele change
- Synonymous_H1214H
Associated conditions / phenotypes
Seckel syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.