RGD:15164459 Rat Genome Database

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Variant: RGD:15164459 -  Homo sapiens

RGD ID: 15164459
RS ID: rs144393256
ClinVar ID: CV756500
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MC4R  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 58,039,115
GRCh38 18 60,371,882
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005912.3:c.468G>A
NG_016441.1:g.5887G>A
NC_000018.10:g.60371882C>T
NC_000018.9:g.58039115C>T
More...
06/06/2018 synonymous variant benign|likely benign 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: Q to Q (synonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNSTHRGMHTSLHLWNRSSYRLHSNASESLGKGYSDGGCYEQLFVSPEVFVTLGVISLLENILVIVAIAKNKNLHSPMY
FFICSLAVADMLVSVSNGSETIVITLLNSTDTDAQSFTVNIDNVIDSVICSSLLASICSLLSIAVDRYFTIFYALQYHNI
MTVKRVGIIISCIWAACTVSGILFIIYSDSSAVIICLITMFFTMLALMASLYVHMFLMARLHIKRIAVLPGTGAIRQGAN
MKGAITLTILIGVFVVCWAPFFLHLIFYISCPQNPYCVCFMSHFNLYLILIMCNSIIDPLIYALRSQELRKTFKEIICCY
PLGGLCDLSSRY*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000926386 CLINVAR
  RCV001127992 CLINVAR
dbSNP (RS) rs144393256 CLINVAR
MedGen C0028754 CLINVAR
  C3661900 CLINVAR
NCBI Gene MC4R CLINVAR
OMIM 155541 CLINVAR
SNOMED CT 414916001 CLINVAR