RGD:155954910 Rat Genome Database

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Variant: RGD:155954910 -  Homo sapiens

RGD ID: 155954910
ClinVar ID: CV2069766
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAGT1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 77,096,760
GRCh38 X 77,841,263
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_353t1:c.980A>T
NM_001367916.1:c.884A>T
NM_032121.5:c.980A>T
LRG_353:g.59306A>T
More... 		06/18/2022 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: D to V (nonsynonymous)
Amino Acid Position: 327
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKGKGPICLFSRPTLRPSRSKVSLIEGRGANMAARWRFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWT
NKRPVIRMNGDKFRRLVKAPPRNYSVIVMFTALQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVF
QMLNMNSAPTFINFPAKGKPKRGDTYELQVRGFSAEQIARWIADRTDVNIRVIRPPNYAGPLMLGLLLAVIGGLVYLRRS
NMEFLFNKTGWAFAALCFVLAMTSGQMWNHIRGPPYAHKNPHTGHVNYIHGSSQAQFVAETHIVLLFNGGVTLGMVLLCE
AATSDMVIGKRKIMCVAGIGLVVLFFSWMLSIFRSKYHGYPYSFLMS*

Gene Symbol:MAGT1
Accession:NM_001367916
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAARWRFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWTNKRPVIRMNGDKFRRLVKAPPRNYSVIVMFTA
LQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVFQMLNMNSAPTFINFPAKGKPKRGDTYELQVRG
FSAEQIARWIADRTDVNIRVIRPPNYAGPLMLGLLLAVIGGLVYLRRSNMEFLFNKTGWAFAALCFVLAMTSGQMWNHIR
GPPYAHKNPHTGHVNYIHGSSQAQFVAETHIVLLFNGGVTLGMVLLCEAATSDMVIGKRKIMCVAGIGLVVLFFSWMLSI
FRSKYHGYPYSFLMS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002816465 CLINVAR
MedGen C3275445 CLINVAR
NCBI Gene MAGT1 CLINVAR
OMIM 300715 CLINVAR
  300853 CLINVAR