Variant (rsID / SNP)

rs886042160

rs886042160 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIFR. Location: chromosome 5, position 38,511,974. Clinical significance in the table: Pathogenic.

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Reference-table entries

LIFRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 5:38511974
Cytoband: 5p13.1
HGVS: NM_001127671.2(LIFR):c.653dup (p.Glu219fs)

Associated conditions / phenotypes

Stuve-Wiedemann syndrome|Familial hemophagocytic lymphohistiocytosis 2

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.