Variant (rsID / SNP)

rs587777562

rs587777562 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGM3. Location: chromosome 6, position 83,891,505. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PGM3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:83891505
Cytoband: 6q14.1
HGVS: NM_015599.3(PGM3):c.737A>G (p.Asn246Ser)
Allele change: Missense_N246S

Associated conditions / phenotypes

Immunodeficiency 23

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.