Variant (rsID / SNP)
rs772372530
rs772372530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPSM2. Location: chromosome 1, position 109,465,069. Clinical significance in the table: Pathogenic.
Reference-table entries
GPSM2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 1:109465069
- Cytoband
- 1p13.3
- HGVS
- NM_013296.5(GPSM2):c.1473del (p.Phe492fs)
Associated conditions / phenotypes
GPSM2-Related Disorders|Rare genetic deafness|Chudley-McCullough syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.