RGD:329386328 Rat Genome Database

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Variant: RGD:329386328 -  Homo sapiens

RGD ID: 329386328
ClinVar ID: CV2455859
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MC5R  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 13,826,276
GRCh38 18 13,826,277
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005913.3:c.512C>A
NC_000018.10:g.13826277C>A
NC_000018.9:g.13826276C>A
NM_005913.2:c.512C>A
More... 		02/16/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MC5R
Accession:NM_005913
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNSSFHLHFLDLNLNATEGNLSGPNVKNKSSPCEDMGIAVEVFLTLGVISLLENILVIGAIVKNKNLHSPMYFFVCSLAV
ADMLVSMSSAWETITIYLLNNKHLVIADAFVRHIDNVFDSMICISVVASMCSLLAIAVDRYVTIFYALRYHHIMTARRSG
AIIAGIWAFCKGCGIVFILYSESTYVILCLISMFFAMLFLLVSLYIHMFLLARTHVKRIAALPGASSARQRTSMQGAVTV
TMLLGVFTVCWAPFFLHLTLMLSCPQNLYCSRFMSHFNMYLILIMCNSVMDPLIYAFRSQEMRKTFKEIICCRGFRIACS
FPRRD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004279139 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MC5R CLINVAR
OMIM 600042 CLINVAR