Variant (rsID / SNP)
rs140464170
rs140464170 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCA2. Location: chromosome 9, position 2,073,319. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SMARCA2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:2073319
- Cytoband
- 9p24.3
- HGVS
- NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=)
- Allele change
- Synonymous_D618D
Associated conditions / phenotypes
Nicolaides-Baraitser syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.