Variant (rsID / SNP)
rs528069912
rs528069912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPSM2. Location: chromosome 1, position 109,441,560. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GPSM2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 1:109441560
- Cytoband
- 1p13.3
- HGVS
- NM_013296.5(GPSM2):c.742del (p.Gly249fs)
Associated conditions / phenotypes
Chudley-McCullough syndrome|Rare genetic deafness|GPSM2-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.