Variant (rsID / SNP)

rs587779770

rs587779770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTB. Location: chromosome 7, position 5,568,935. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ACTBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:5568935
Cytoband: 7p22.1
HGVS: NM_001101.5(ACTB):c.220G>A (p.Gly74Ser)
Allele change: Missense_G74S

Associated conditions / phenotypes

Baraitser-Winter syndrome 1

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.