Variant (rsID / SNP)

rs869312825

rs869312825 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNB1. Location: chromosome 1, position 1,735,987. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GNB1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:1735987
Cytoband: 1p36.33
HGVS: NM_002074.5(GNB1):c.301A>G (p.Met101Val)
Allele change: Missense_M101V

Associated conditions / phenotypes

10 conditions|Intellectual disability, autosomal dominant 42|Hypotonia|Seizure|Neurodevelopmental Disability

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.