Variant (rsID / SNP)

rs146866401

rs146866401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIM1. Location: chromosome 6, position 100,838,544. Clinical significance in the table: Benign.

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Reference-table entries

SIM1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:100838544
Cytoband: 6q16.3
HGVS: NM_005068.3(SIM1):c.1994G>A (p.Arg665His)
Allele change: Missense_R665H

Associated conditions / phenotypes

Oromandibular-limb hypogenesis spectrum|Obesity due to SIM1 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.