RGD:151821895 Rat Genome Database

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Variant: RGD:151821895 -  Homo sapiens

RGD ID: 151821895
RS ID: rs2077096166
ClinVar ID: CV1412565
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAGT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 77,150,931
GRCh38 X 77,895,434
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_353t1:c.73C>G
NM_001367916.1:c.-24C>G
NM_032121.5:c.73C>G
LRG_1250:g.971G>C
More... 		09/01/2021 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAGT1
Accession:NM_001367916
Location:5UTRS;EXON

Gene Symbol:MAGT1
Accession:NM_032121
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKGKGPICLFSRPTLRPSRSKVSVIEGRGANMAARWRFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWT
NKRPVIRMNGDKFRRLVKAPPRNYSVIVMFTALQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVF
QMLNMNSAPTFINFPAKGKPKRGDTYELQVRGFSAEQIARWIADRTDVNIRVIRPPNYAGPLMLGLLLAVIGGLVYLRRS
NMEFLFNKTGWAFAALCFVLAMTSGQMWNHIRGPPYAHKNPHTGHVNYIHGSSQAQFVAETHIVLLFNGGVTLGMVLLCE
AATSDMDIGKRKIMCVAGIGLVVLFFSWMLSIFRSKYHGYPYSFLMS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001919657 CLINVAR
dbSNP (RS) rs2077096166 CLINVAR
MedGen C3275445 CLINVAR
NCBI Gene MAGT1 CLINVAR
OMIM 300715 CLINVAR
  300853 CLINVAR