RGD:8599775 Rat Genome Database

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Variant: RGD:8599775 -  Homo sapiens

RGD ID: 8599775
RS ID: rs121913563
ClinVar ID: CV29369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MC4R  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 58,039,060
GRCh38 18 60,371,827
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_016441.1:g.5942G>A
NC_000018.10:g.60371827C>T
NC_000018.9:g.58039060C>T
NP_005903.2:p.Ala175Thr
More... 		08/18/2022 missense variant pathogenic|benign|uncertain significance neonatal/infancy 1-5 / 10 000 AllHighlyPenetrant; MC4R DEFICIENCY; MELANOCORTIN 4 RECEPTOR DEFICIENCY; none provided; Obesity disorder
Disease Annotations     Click to see Annotation Detail View
obesity  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Obesity  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:MC4R
Accession:NM_005912
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNSTHRGMHTSLHLWNRSSYRLHSNASESLGKGYSDGGCYEQLFVSPEVFVTLGVISLLENILVIVAIAKNKNLHSPMY
FFICSLAVADMLVSVSNGSETIVITLLNSTDTDAQSFTVNIDNVIDSVICSSLLASICSLLSIAVDRYFTIFYALQYHNI
MTVKRVGIIISCIWTACTVSGILFIIYSDSSAVIICLITMFFTMLALMASLYVHMFLMARLHIKRIAVLPGTGAIRQGAN
MKGAITLTILIGVFVVCWAPFFLHLIFYISCPQNPYCVCFMSHFNLYLILIMCNSIIDPLIYALRSQELRKTFKEIICCY
PLGGLCDLSSRY*
Variant Samples
Additional References at PubMed
PMID:12588803   PMID:12646665   PMID:15975705   PMID:25741868   PMID:28492532   PMID:31002796  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015406 CLINVAR
  RCV000768579 CLINVAR
  RCV002247343 CLINVAR
  RCV002513063 CLINVAR
  RCV003415708 CLINVAR
dbSNP (RS) rs121913563 CLINVAR
MedGen C0028754 CLINVAR
  C3661900 CLINVAR
  C4759928 CLINVAR
  CN169374 CLINVAR
NCBI Gene MC4R CLINVAR
OMIM 155541 CLINVAR
  618406 CLINVAR
OMIM Allele 155541.0015 CLINVAR
SNOMED CT 414916001 CLINVAR