RGD:151883149 Rat Genome Database

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Variant: RGD:151883149 -  Homo sapiens

RGD ID: 151883149
RS ID: rs770170468
ClinVar ID: CV1384085
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130057889  MESP1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 90,294,219
GRCh38 15 89,750,988
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018670.4:c.244G>C
NC_000015.10:g.89750988C>G
NC_000015.9:g.90294219C>G
NP_061140.1:p.Gly82Arg
More... 		08/28/2021 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MESP1
Accession:NM_018670
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQPLCPPLSESWMLSAAWGPTRRPPPSDKDCGRSLVSSPDSWGSTPADSPVASPARPGTLRDPRAPSVGRRGARSSRLG
SRQRQSASEREKLRMRTLARALHELRRFLPPSVAPAGQSLTKIETLRLAIRYIGHLSAVLGLSEESLQRRCRQRGDAGSP
RGCPLCPDDCPAQMQTRTQAEGQGQGRGLGLVSAVRAGASWGSPPACPGARAAPEPRDPPALFAEAACPEGQAMEPSPPS
PLLPGDVLALLETWMPLSPLEWLPEEPK*

Gene Symbol:MESP1
Accession:XR_001751350
Location:EXON;NON-CODING

Gene Symbol:MESP1
Accession:XR_001751352
Location:EXON;NON-CODING

Gene Symbol:MESP1
Accession:XR_007064473
Location:EXON;NON-CODING

Gene Symbol:MESP1
Accession:XR_001751354
Location:EXON;NON-CODING

Gene Symbol:MESP1
Accession:XR_001751351
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001886873 CLINVAR
  RCV002553528 CLINVAR
dbSNP (RS) rs770170468 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC130057889 CLINVAR
  MESP1 CLINVAR
OMIM 608689 CLINVAR