RGD:9589176 Rat Genome Database

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Variant: RGD:9589176 -  Homo sapiens

RGD ID: 9589176
RS ID: rs587779770
ClinVar ID: CV132661
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTB  LOC127408414  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 5,568,935
GRCh38 7 5,529,304
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_132:g.6298G>A
NG_007992.1:g.6298G>A
NC_000007.14:g.5529304C>T
NC_000007.13:g.5568935C>T
More... 		05/03/2016 missense variant pathogenic|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; none provided; 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: G to S (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHSIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVT
HTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSY
ELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITAL
APSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF*
Variant Samples
Additional References at PubMed
PMID:23756437   PMID:25052316   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000133566 CLINVAR
  RCV000327760 CLINVAR
dbSNP (RS) rs587779770 CLINVAR
MedGen C1855722 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACTB CLINVAR
OMIM 102630 CLINVAR
  243310 CLINVAR