Variant (rsID / SNP)

rs864309487

rs864309487 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GMNN. Location: chromosome 6, position 24,777,509. Clinical significance in the table: Pathogenic.

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Reference-table entries

GMNNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 6:24777509
Cytoband: 6p22.3
HGVS: NM_015895.5(GMNN):c.35_38del (p.Ile12fs)

Associated conditions / phenotypes

Meier-Gorlin syndrome|Meier-Gorlin syndrome 6

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.