Variant (rsID / SNP)
rs3734441
rs3734441 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARID1B. Location: chromosome 6, position 157,405,930. Clinical significance in the table: Benign.
Reference-table entries
ARID1BBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:157405930
- Cytoband
- 6q25.3
- HGVS
- NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=)
- Allele change
- Synonymous_A711A
Associated conditions / phenotypes
History of neurodevelopmental disorder|Coffin-Siris syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
