Variant (rsID / SNP)

rs587779777

rs587779777 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTB. Location: chromosome 7, position 5,568,089. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ACTBPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:5568089
Cytoband: 7p22.1
HGVS: NM_001101.5(ACTB):c.625G>A (p.Val209Met)
Allele change: Missense_V209M

Associated conditions / phenotypes

Baraitser-Winter syndrome 1|ACTB-related BAFopathy

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.