RGD:8599774 Rat Genome Database

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Variant: RGD:8599774 -  Homo sapiens

RGD ID: 8599774
RS ID: rs121913562
ClinVar ID: CV29368
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MC4R  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 58,038,771
GRCh38 18 60,371,538
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.6231G>A
NC_000018.10:g.60371538C>T
NC_000018.9:g.58038771C>T
NP_005903.2:p.Cys271Tyr
More... 		01/23/2020 missense|missense variant pathogenic neonatal/infancy 1-5 / 10 000 MC4R DEFICIENCY; MELANOCORTIN 4 RECEPTOR DEFICIENCY; 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: C to Y (nonsynonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNSTHRGMHTSLHLWNRSSYRLHSNASESLGKGYSDGGCYEQLFVSPEVFVTLGVISLLENILVIVAIAKNKNLHSPMY
FFICSLAVADMLVSVSNGSETIVITLLNSTDTDAQSFTVNIDNVIDSVICSSLLASICSLLSIAVDRYFTIFYALQYHNI
MTVKRVGIIISCIWAACTVSGILFIIYSDSSAVIICLITMFFTMLALMASLYVHMFLMARLHIKRIAVLPGTGAIRQGAN
MKGAITLTILIGVFVVCWAPFFLHLIFYISYPQNPYCVCFMSHFNLYLILIMCNSIIDPLIYALRSQELRKTFKEIICCY
PLGGLCDLSSRY*
Variant Samples
Additional References at PubMed
PMID:12588803   PMID:12646665   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015405 CLINVAR
  RCV000768578 CLINVAR
dbSNP (RS) rs121913562 CLINVAR
MedGen C0028754 CLINVAR
  C4759928 CLINVAR
NCBI Gene MC4R CLINVAR
OMIM 155541 CLINVAR
  618406 CLINVAR
OMIM Allele 155541.0014 CLINVAR
SNOMED CT 414916001 CLINVAR