Variant (rsID / SNP)

rs1805134

rs1805134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LEPR. Location: chromosome 1, position 66,067,109. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LEPRBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:66067109
Cytoband: 1p31.3
HGVS: NM_002303.6(LEPR):c.1029T>C (p.Ser343=)
Allele change: Synonymous_S343S

Associated conditions / phenotypes

Monogenic Non-Syndromic Obesity|Obesity due to leptin receptor gene deficiency

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.