Variant (rsID / SNP)
rs145303691
rs145303691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTG1. Location: chromosome 17, position 79,478,112. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ACTG1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:79478112
- Cytoband
- 17q25.3
- HGVS
- NM_001614.5(ACTG1):c.825C>T (p.His275=)
- Allele change
- Synonymous_H275H
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
