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Variant (rsID / SNP)

rs146800850

GLE1

rs146800850 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLE1. Location: chromosome 9, position 131,286,051. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GLE1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:131286051
Cytoband
9q34.11
HGVS
NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn)
Allele change
Silent

Associated conditions / phenotypes

Lethal arthrogryposis-anterior horn cell disease syndrome|Lethal congenital contracture syndrome 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.