RGD:11632993 Rat Genome Database

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Variant: RGD:11632993 -  Homo sapiens

RGD ID: 11632993
RS ID: rs886041266
ClinVar ID: CV264342
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTB  LOC127408413  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 5,568,117
GRCh38 7 5,528,486
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_132t1:c.597C>G
LRG_132:g.7116C>G
NG_007992.1:g.7116C>G
NC_000007.14:g.5528486G>C
More...
10/17/2016 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:ACTB
Accession:NM_001101
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 199
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVT
HTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYRFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSY
ELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITAL
APSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000302509 CLINVAR
dbSNP (RS) rs886041266 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ACTB CLINVAR
OMIM 102630 CLINVAR