Variant (rsID / SNP)

rs193922650

rs193922650 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LEPR. Location: chromosome 1, position 66,102,080. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LEPRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:66102080
Cytoband: 1p31.3
HGVS: NM_002303.6(LEPR):c.2880C>G (p.Asn960Lys)
Allele change: Missense_N960K

Associated conditions / phenotypes

Obesity

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.