Variant (rsID / SNP)
rs61754640
rs61754640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPSM2. Location: chromosome 1, position 109,446,750. 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
- 1:109446750
- Cytoband
- 1p13.3
- HGVS
- NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg)
- Allele change
- Missense_G356R
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.