RGD:151787206 Rat Genome Database

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Variant: RGD:151787206 -  Homo sapiens

RGD ID: 151787206
RS ID: rs913458526
ClinVar ID: CV1496552
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAGT1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 77,150,973
GRCh38 X 77,895,476
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_353t1:c.31T>G
NM_032121.5:c.31T>G
LRG_1250:g.1013A>C
LRG_353:g.5093T>G
More... 		07/28/2021 missense variant uncertain significance AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAGT1
Accession:NM_032121
Location:EXON
Amino Acid Prediction: F to V (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKGKGPICLVSRPTLRPSRSKVSLIEGRGANMAARWRFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWT
NKRPVIRMNGDKFRRLVKAPPRNYSVIVMFTALQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVF
QMLNMNSAPTFINFPAKGKPKRGDTYELQVRGFSAEQIARWIADRTDVNIRVIRPPNYAGPLMLGLLLAVIGGLVYLRRS
NMEFLFNKTGWAFAALCFVLAMTSGQMWNHIRGPPYAHKNPHTGHVNYIHGSSQAQFVAETHIVLLFNGGVTLGMVLLCE
AATSDMDIGKRKIMCVAGIGLVVLFFSWMLSIFRSKYHGYPYSFLMS*

Gene Symbol:MAGT1
Accession:NM_001367916
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001895455 CLINVAR
  RCV003317540 CLINVAR
dbSNP (RS) rs913458526 CLINVAR
MedGen C3275445 CLINVAR
  CN169374 CLINVAR
NCBI Gene MAGT1 CLINVAR
OMIM 300715 CLINVAR
  300853 CLINVAR