Variant (rsID / SNP)

rs338489

rs338489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPSM2. Location: chromosome 1, position 109,444,442. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GPSM2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:109444442
Cytoband: 1p13.3
HGVS: NM_013296.5(GPSM2):c.828A>G (p.Lys276=)
Allele change: Synonymous_K276K

Associated conditions / phenotypes

Chudley-McCullough syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.