RGD:156113630 Rat Genome Database

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Variant: RGD:156113630 -  Homo sapiens

RGD ID: 156113630
ClinVar ID: CV2397076
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTRT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 2,939,155
GRCh38 1 3,022,591
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_080431.5:c.905C>T
NC_000001.11:g.3022591C>T
NC_000001.10:g.2939155C>T
NM_080431.4:c.905C>T
More... 		10/12/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ACTRT2
Accession:NM_080431
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFNPHALDSPAVIFDNGSGFCKAGLSGEFGPRHMVSSIVGHLKFQAPSAEANQKKYFVGEEALYKQEALQLHSPFERGLI
TGWDDVERLWKHLFEWELGVKPSDQPLLATEPSLNPRENREKMAEVMFENFGVPAFYLSDQAVLALYASACVTGLVVDSG
DAVTCTVPIFEGYSLPHAVTKLHVAGRDITELLMQLLLASGHTFPCQLDKGLVDDIKKKLCYVALEPEKELSRRPEEVLR
EYKLPDGNIISLGDPLHQAPEALFVPQQLGSQSPGLSNMVSSSITKCDTDIQKILFGEIVLLGGTTLFHGLDDRLLKELE
QLASKDTPIKITAPPDRWFSTWIGASIVTSLSSFKQMWVTAADFKEFGTSVVQRRCF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004236586 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ACTRT2 CLINVAR
OMIM 608535 CLINVAR