Variant (rsID / SNP)

rs281875334

rs281875334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTB. Location: chromosome 7, position 5,568,127. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACTBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:5568127
Cytoband: 7p22.1
HGVS: NM_001101.5(ACTB):c.587G>A (p.Arg196His)
Allele change: Missense_R196H

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.