Variant (rsID / SNP)
rs41279678
rs41279678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPSM2. Location: chromosome 1, position 109,440,215. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
GPSM2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:109440215
- Cytoband
- 1p13.3
- HGVS
- NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln)
- Allele change
- Missense_R127Q
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.