RGD:38464627 Rat Genome Database

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Variant: RGD:38464627 -  Homo sapiens

RGD ID: 38464627
RS ID: rs1784814819
ClinVar ID: CV961609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTB  LOC127408413  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 5,568,223
GRCh38 7 5,528,592
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001092.1:p.Pro164His
LRG_132t1:c.491C>A
NM_001101.5:c.491C>A
NC_000007.13:g.5568223G>T
More... 		09/25/2018 missense variant likely pathogenic BARAITSER-WINTER SYNDROME 1, ATYPICAL; Cerebrofrontofacial syndrome; Developmental malformations-deafness-dystonia syndrome; Iris coloboma with ptosis, hypertelorism, and mental retardation; Juvenile-onset dystonia; 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: P to H (nonsynonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVT
HTVHIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSY
ELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITAL
APSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001249679 CLINVAR
dbSNP (RS) rs1784814819 CLINVAR
MedGen C1855722 CLINVAR
NCBI Gene ACTB CLINVAR
OMIM 102630 CLINVAR
  243310 CLINVAR
  607371 CLINVAR