Variant (rsID / SNP)

rs141562079

rs141562079 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPSM2. Location: chromosome 1, position 109,456,983. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GPSM2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:109456983
Cytoband: 1p13.3
HGVS: NM_013296.5(GPSM2):c.1216C>T (p.Arg406Trp)
Allele change: Missense_R406W

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.