Variant (rsID / SNP)
rs79730689
rs79730689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPSM2. Location: chromosome 1, position 109,466,760. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GPSM2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:109466760
- Cytoband
- 1p13.3
- HGVS
- NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu)
- Allele change
- Missense_S580L
Associated conditions / phenotypes
Chudley-McCullough syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.