Variant (rsID / SNP)
rs281875326
rs281875326 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTG1. Location: chromosome 17, position 79,478,552. Clinical significance in the table: Pathogenic.
Reference-table entries
ACTG1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:79478552
- Cytoband
- 17q25.3
- HGVS
- NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe)
- Allele change
- Missense_S155F
Associated conditions / phenotypes
Baraitser-winter syndrome 2|Congenital anomaly of kidney and urinary tract
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.