Variant (rsID / SNP)

rs369399450

rs369399450 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFM1. Location: chromosome 3, position 158,380,462. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GFM1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:158380462
Cytoband: 3q25.32
HGVS: NM_024996.7(GFM1):c.1369C>T (p.Pro457Ser)
Allele change: Missense_P476S

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.