RGD:13478940 Rat Genome Database

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Variant: RGD:13478940 -  Homo sapiens

RGD ID: 13478940
RS ID: rs1554329554
ClinVar ID: CV444145
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTB  LOC127408414  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 5,568,897
GRCh38 7 5,529,266
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.13:g.5568897C>G
NP_001092.1:p.Trp86Cys
LRG_132:g.6336G>C
NM_001101.3:c.258G>C
More... 		12/19/2017 missense variant likely pathogenic|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ACTB
Accession:NM_001101
Location:EXON
Amino Acid Prediction: W to C (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKICHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVT
HTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSY
ELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITAL
APSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000520817 CLINVAR
dbSNP (RS) rs1554329554 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ACTB CLINVAR
OMIM 102630 CLINVAR