Variant (rsID / SNP)

rs17848368

rs17848368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UCP3. Location: chromosome 11, position 73,717,343. Clinical significance in the table: Pathogenic.

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Reference-table entries

UCP3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:73717343
Cytoband: 11q13.4
HGVS: NM_003356.4(UCP3):c.208C>T (p.Arg70Trp)
Allele change: Missense_R70W

Associated conditions / phenotypes

Obesity, severe, and type II diabetes

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.