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Variant (rsID / SNP)

rs35089879

GPSM2

rs35089879 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPSM2. Location: chromosome 1, position 109,461,341. 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
1:109461341
Cytoband
1p13.3
HGVS
NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met)
Allele change
Missense_T457M

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.