RGD:156386893 Rat Genome Database

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Variant: RGD:156386893 -  Homo sapiens

RGD ID: 156386893
ClinVar ID: CV2221347
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 230,841,793
GRCh38 1 230,706,047
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001382817.3:c.983C>T
NM_001384479.1:c.983C>T
NG_008836.2:g.13544C>T
NG_008836.3:g.44536C>T
More... 		08/18/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AGT
Accession:NM_001384479
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPAGVSLRATILCLLAWAGLAAGDRVYIHPFHLVIHNESTCEQLAKANAGKPKDPTFIPAPIQAKTSPVDEKALQDQLV
LVAAKLDTEDKLRAAMVGMLANFLGFRIYGMHSELWGVVHGATVLSPTAVFGTLASLYLGALDHTADRLQAILGVPWKDK
NCTSRLDAHKVLSALQAVQGLLVAQGRADSQAQLLLSTVVGVFTAPGLHLKQPFVQGLALYTPVVLPRSLDFTELDVAAE
KIDRFMQAVTGWKTGCSLMGASVDSTLAFNTYVHFQGKMKGFSLLAEPQEFWVDNSTSVSVPMLSGMGTFQHWSDIQDNF
SVTQVPFIESACLLLIQPHYASDLDKVEGLTFQQNSLNWMKKLSPRTIHLTMPQLVLQGSYDLQDLLAQAELPAILHTEL
NLQKLSNDRIRVGEVLNSIFFELEADEREPTESTQQLNKPEVLEVTLNRPFLFAVYDQSATALHFLGRVANPLSTA*

Gene Symbol:AGT
Accession:NM_001382817
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPAGVSLRATILCLLAWAGLAAGDRVYIHPFHLVIHNESTCEQLAKANAGKPKDPTFIPAPIQAKTSPVDEKALQDQLV
LVAAKLDTEDKLRAAMVGMLANFLGFRIYGMHSELWGVVHGATVLSPTAVFGTLASLYLGALDHTADRLQAILGVPWKDK
NCTSRLDAHKVLSALQAVQGLLVAQGRADSQAQLLLSTVVGVFTAPGLHLKQPFVQGLALYTPVVLPRSLDFTELDVAAE
KIDRFMQAVTGWKTGCSLMGASVDSTLAFNTYVHFQGKMKGFSLLAEPQEFWVDNSTSVSVPMLSGMGTFQHWSDIQDNF
SVTQVPFIESACLLLIQPHYASDLDKVEGLTFQQNSLNWMKKLSPRTIHLTMPQLVLQGSYDLQDLLAQAELPAILHTEL
NLQKLSNDRIRVGEVLNSIFFELEADEREPTESTQQLNKPEVLEVTLNRPFLFAVYDQSATALHFLGRVANPLSTA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002723763 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene AGT CLINVAR
OMIM 106150 CLINVAR