Variant (rsID / SNP)

rs121434407

rs121434407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLE1. Location: chromosome 9, position 131,298,693. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GLE1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:131298693
Cytoband: 9q34.11
HGVS: NM_001003722.2(GLE1):c.1706G>A (p.Arg569His)
Allele change: Silent

Associated conditions / phenotypes

Lethal congenital contracture syndrome 1|Inborn genetic diseases|Lethal arthrogryposis-anterior horn cell disease syndrome|Lethal congenital contractural syndrome Finnish type

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.