Variant (rsID / SNP)
rs77070978
rs77070978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCA2. Location: chromosome 9, position 2,186,224. Clinical significance in the table: Benign.
Reference-table entries
SMARCA2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:2186224
- Cytoband
- 9p24.3
- HGVS
- NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=)
- Allele change
- Synonymous_S1454S
Associated conditions / phenotypes
Nicolaides-Baraitser syndrome|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.