RGD:155917897 Rat Genome Database

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Variant: RGD:155917897 -  Homo sapiens

RGD ID: 155917897
ClinVar ID: CV2362447
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTRT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 2,938,932
GRCh38 1 3,022,368
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.682G>A
NP_536356.3:p.Glu228Lys
NC_000001.11:g.3022368G>A
NC_000001.10:g.2938932G>A
More... 		12/02/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ACTRT2
Accession:NM_080431
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFNPHALDSPAVIFDNGSGFCKAGLSGEFGPRHMVSSIVGHLKFQAPSAEANQKKYFVGEEALYKQEALQLHSPFERGLI
TGWDDVERLWKHLFEWELGVKPSDQPLLATEPSLNPRENREKMAEVMFENFGVPAFYLSDQAVLALYASACVTGLVVDSG
DAVTCTVPIFEGYSLPHAVTKLHVAGRDITELLMQLLLASGHTFPCQLDKGLVDDIKKKLCYVALEPKKELSRRPEEVLR
EYKLPDGNIISLGDPLHQAPEALFVPQQLGSQSPGLSNMVSSSITKCDTDIQKILFGEIVLSGGTTLFHGLDDRLLKELE
QLASKDTPIKITAPPDRWFSTWIGASIVTSLSSFKQMWVTAADFKEFGTSVVQRRCF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004213068 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ACTRT2 CLINVAR
OMIM 608535 CLINVAR