Variant (rsID / SNP)
rs886041003
rs886041003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MBD5. Location: chromosome 2, position 149,225,952. Clinical significance in the table: Pathogenic.
Reference-table entries
MBD5Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:149225952
- Cytoband
- 2q23.1
- HGVS
- NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter)
- Allele change
- Nonsense_S147X
Associated conditions / phenotypes
Intellectual disability, autosomal dominant 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.