Variant (rsID / SNP)

rs74726213

rs74726213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIM1. Location: chromosome 6, position 100,838,419. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SIM1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:100838419
Cytoband: 6q16.3
HGVS: NM_005068.3(SIM1):c.2119G>C (p.Asp707His)
Allele change: Missense_D707H

Associated conditions / phenotypes

Oromandibular-limb hypogenesis spectrum|Obesity due to SIM1 deficiency|Monogenic 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.