RGD:8643125 Rat Genome Database

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Variant: RGD:8643125 -  Homo sapiens

RGD ID: 8643125
RS ID: rs140854076
ClinVar ID: CV102108
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130068460  MAGT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 77,150,892
GRCh38 X 77,895,395
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032121.5:c.112C>T
NM_032121.5:c.112C>T
LRG_353:g.5174C>T
NG_016390.1:g.5174C>T
More...
12/31/2019 missense|missense variant benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; none provided
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 W (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKGKGPICLFSRPTLRPSRSKVSLIEGRGANMAARWWFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWT
NKRPVIRMNGDKFRRLVKAPPRNYSVIVMFTALQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVF
QMLNMNSAPTFINFPAKGKPKRGDTYELQVRGFSAEQIARWIADRTDVNIRVIRPPNYAGPLMLGLLLAVIGGLVYLRRS
NMEFLFNKTGWAFAALCFVLAMTSGQMWNHIRGPPYAHKNPHTGHVNYIHGSSQAQFVAETHIVLLFNGGVTLGMVLLCE
AATSDMDIGKRKIMCVAGIGLVVLFFSWMLSIFRSKYHGYPYSFLMS*

Gene Symbol:MAGT1
Accession:NM_001367916
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAARWWFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWTNKRPVIRMNGDKFRRLVKAPPRNYSVIVMFTA
LQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVFQMLNMNSAPTFINFPAKGKPKRGDTYELQVRG
FSAEQIARWIADRTDVNIRVIRPPNYAGPLMLGLLLAVIGGLVYLRRSNMEFLFNKTGWAFAALCFVLAMTSGQMWNHIR
GPPYAHKNPHTGHVNYIHGSSQAQFVAETHIVLLFNGGVTLGMVLLCEAATSDMDIGKRKIMCVAGIGLVVLFFSWMLSI
FRSKYHGYPYSFLMS*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000082293 CLINVAR
  RCV001085781 CLINVAR
  RCV001818252 CLINVAR
dbSNP (RS) rs140854076 CLINVAR
MedGen C3275445 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LOC130068460 CLINVAR
  MAGT1 CLINVAR
OMIM 300715 CLINVAR
  300853 CLINVAR