RGD:12912787 Rat Genome Database

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Variant: RGD:12912787 -  Homo sapiens

RGD ID: 12912787
RS ID: rs1131691341
ClinVar ID: CV421638
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTB  LOC127408414  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 5,568,940
GRCh38 7 5,529,309
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_132t1:c.215A>G
LRG_132:g.6293A>G
NG_007992.1:g.6293A>G
NC_000007.14:g.5529309T>C
More... 		05/04/2017 missense variant likely pathogenic|not provided 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: E to G (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIGHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVT
HTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSY
ELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITAL
APSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000493017 CLINVAR
  RCV003313084 CLINVAR
dbSNP (RS) rs1131691341 CLINVAR
MedGen C1855722 CLINVAR
  CN517202 CLINVAR
NCBI Gene ACTB CLINVAR
OMIM 102630 CLINVAR
  243310 CLINVAR