RGD:156419400 Rat Genome Database

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Variant: RGD:156419400 -  Homo sapiens

RGD ID: 156419400
ClinVar ID: CV1932765
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAGT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 77,131,012
GRCh38 X 77,875,515
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_353t1:c.281G>A
NM_001367916.1:c.185G>A
NM_032121.5:c.281G>A
LRG_353:g.25054G>A
More... 		08/23/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAGT1
Accession:NM_032121
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKGKGPICLFSRPTLRPSRSKVSLIEGRGANMAARWRFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWT
NKRPVIRMNGDKFHRLVKAPPRNYSVIVMFTALQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVF
QMLNMNSAPTFINFPAKGKPKRGDTYELQVRGFSAEQIARWIADRTDVNIRVIRPPNYAGPLMLGLLLAVIGGLVYLRRS
NMEFLFNKTGWAFAALCFVLAMTSGQMWNHIRGPPYAHKNPHTGHVNYIHGSSQAQFVAETHIVLLFNGGVTLGMVLLCE
AATSDMDIGKRKIMCVAGIGLVVLFFSWMLSIFRSKYHGYPYSFLMS*

Gene Symbol:MAGT1
Accession:NM_001367916
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAARWRFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWTNKRPVIRMNGDKFHRLVKAPPRNYSVIVMFTA
LQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVFQMLNMNSAPTFINFPAKGKPKRGDTYELQVRG
FSAEQIARWIADRTDVNIRVIRPPNYAGPLMLGLLLAVIGGLVYLRRSNMEFLFNKTGWAFAALCFVLAMTSGQMWNHIR
GPPYAHKNPHTGHVNYIHGSSQAQFVAETHIVLLFNGGVTLGMVLLCEAATSDMDIGKRKIMCVAGIGLVVLFFSWMLSI
FRSKYHGYPYSFLMS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002612632 CLINVAR
MedGen C3275445 CLINVAR
NCBI Gene MAGT1 CLINVAR
OMIM 300715 CLINVAR
  300853 CLINVAR