RGD:156174050 Rat Genome Database

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Variant: RGD:156174050 -  Homo sapiens

RGD ID: 156174050
ClinVar ID: CV2333764
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTRT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 2,938,647
GRCh38 1 3,022,083
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.3022083G>A
NC_000001.10:g.2938647G>A
NM_080431.4:c.397G>A
NP_536356.3:p.Val133Met
More... 		08/12/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ACTRT2
Accession:NM_080431
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFNPHALDSPAVIFDNGSGFCKAGLSGEFGPRHMVSSIVGHLKFQAPSAEANQKKYFVGEEALYKQEALQLHSPFERGLI
TGWDDVERLWKHLFEWELGVKPSDQPLLATEPSLNPRENREKMAEVMFENFGMPAFYLSDQAVLALYASACVTGLVVDSG
DAVTCTVPIFEGYSLPHAVTKLHVAGRDITELLMQLLLASGHTFPCQLDKGLVDDIKKKLCYVALEPEKELSRRPEEVLR
EYKLPDGNIISLGDPLHQAPEALFVPQQLGSQSPGLSNMVSSSITKCDTDIQKILFGEIVLSGGTTLFHGLDDRLLKELE
QLASKDTPIKITAPPDRWFSTWIGASIVTSLSSFKQMWVTAADFKEFGTSVVQRRCF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004181271 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ACTRT2 CLINVAR
OMIM 608535 CLINVAR