Variant (rsID / SNP)
rs387906722
rs387906722 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMER1. Location: chromosome X, position 63,412,738. Clinical significance in the table: Pathogenic.
Reference-table entries
AMER1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- X:63412738
- Cytoband
- Xq11.2
- HGVS
- NM_152424.4(AMER1):c.429T>A (p.Cys143Ter)
- Allele change
- Nonsense_C143X
Associated conditions / phenotypes
Osteopathia striata with cranial sclerosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.