Variant (rsID / SNP)

rs3729734

rs3729734 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIFR. Location: chromosome 5, position 38,527,308. Clinical significance in the table: Benign.

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Reference-table entries

LIFRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:38527308
Cytoband: 5p13.1
HGVS: NM_001127671.2(LIFR):c.346C>T (p.His116Tyr)
Allele change: Missense_H116Y

Associated conditions / phenotypes

Stuve-Wiedemann syndrome|Connective tissue disorder

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.