RGD:8657477 Rat Genome Database

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Variant: RGD:8657477 -  Homo sapiens

RGD ID: 8657477
RS ID: rs587780273
ClinVar ID: CV133711
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTB  LOC127408414  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 5,569,225
GRCh38 7 5,529,594
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_132t1:c.64G>A
LRG_132:g.6008G>A
NG_007992.1:g.6008G>A
NC_000007.14:g.5529594C>T
More...
08/15/2013 missense variant likely pathogenic neonatal/infancy <1 / 1 000 000 BARAITSER-WINTER SYNDROME 1, ATYPICAL; CEREBROFRONTOFACIAL SYNDROME; Iris coloboma with ptosis, hypertelorism, and mental retardation; MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES; PACHYGYRIA, MENTAL RETARDATION, EPILEPSY, AND CHARACTERISTIC FACIES
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACTB
Accession:NM_001101
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDDIAALVVDNGSGMCKAGFTGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVT
HTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSY
ELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITAL
APSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF*

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000116223 CLINVAR
dbSNP (RS) rs587780273 CLINVAR
MedGen C1855722 CLINVAR
NCBI Gene ACTB CLINVAR
OMIM 102630 CLINVAR
  243310 CLINVAR