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Variant (rsID / SNP)

rs144159890

LEPR

rs144159890 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LEPR. Location: chromosome 1, position 66,075,712. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LEPRPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:66075712
Cytoband
1p31.3
HGVS
NM_002303.6(LEPR):c.1835G>A (p.Arg612His)
Allele change
Missense_R612H

Associated conditions / phenotypes

LEPR-Related Disorders|Obesity due to leptin receptor gene deficiency

Public references

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