Variant (rsID / SNP)
rs752746786
rs752746786 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNB1. Location: chromosome 1, position 1,737,942. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:1737942
- Cytoband
- 1p36.33
- HGVS
- NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
- Allele change
- Missense_I80T
Associated conditions / phenotypes
Inborn genetic diseases|7 conditions|13 conditions|Intellectual disability, autosomal dominant 42|Myelodysplastic syndrome|Neurodevelopmental Disability|Hypotonia|Seizure|LEUKEMIA, CHRONIC LYMPHOCYTIC, SOMATIC|Neurodevelopmental disorder|Global developmental delay|Neurodevelopmental abnormality|Intellectual disability|Cerebral palsy|Neurodevelopmental delay
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.