RGD:152137195 Rat Genome Database

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Variant: RGD:152137195 -  Homo sapiens

RGD ID: 152137195
RS ID: rs1557214380
ClinVar ID: CV1581406
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAGT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 77,096,774
GRCh38 X 77,841,277
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_353t1:c.966T>C
NM_001367916.1:c.870T>C
NM_032121.5:c.966T>C
LRG_353:g.59292T>C
More... 		05/19/2021 synonymous variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAGT1
Accession:NM_032121
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKGKGPICLFSRPTLRPSRSKVSLIEGRGANMAARWRFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWT
NKRPVIRMNGDKFRRLVKAPPRNYSVIVMFTALQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVF
QMLNMNSAPTFINFPAKGKPKRGDTYELQVRGFSAEQIARWIADRTDVNIRVIRPPNYAGPLMLGLLLAVIGGLVYLRRS
NMEFLFNKTGWAFAALCFVLAMTSGQMWNHIRGPPYAHKNPHTGHVNYIHGSSQAQFVAETHIVLLFNGGVTLGMVLLCE
AATSDMDIGKRKIMCVAGIGLVVLFFSWMLSIFRSKYHGYPYSFLMS*

Gene Symbol:MAGT1
Accession:NM_001367916
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAARWRFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWTNKRPVIRMNGDKFRRLVKAPPRNYSVIVMFTA
LQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVFQMLNMNSAPTFINFPAKGKPKRGDTYELQVRG
FSAEQIARWIADRTDVNIRVIRPPNYAGPLMLGLLLAVIGGLVYLRRSNMEFLFNKTGWAFAALCFVLAMTSGQMWNHIR
GPPYAHKNPHTGHVNYIHGSSQAQFVAETHIVLLFNGGVTLGMVLLCEAATSDMDIGKRKIMCVAGIGLVVLFFSWMLSI
FRSKYHGYPYSFLMS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002100276 CLINVAR
dbSNP (RS) rs1557214380 CLINVAR
MedGen C3275445 CLINVAR
NCBI Gene MAGT1 CLINVAR
OMIM 300715 CLINVAR
  300853 CLINVAR