RGD:12848364 Rat Genome Database

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Variant: RGD:12848364 -  Homo sapiens

RGD ID: 12848364
RS ID: rs79074016
ClinVar ID: CV371165
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTB  LOC127408413  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 5,568,288
GRCh38 7 5,528,657
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001101.3:c.426G>T
LRG_132t1:c.426G>T
LRG_132:g.6945G>T
NG_007992.1:g.6945G>T
More...
12/31/2019 synonymous variant benign|likely benign AllHighlyPenetrant; 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; 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: L to L (synonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVT
HTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSY
ELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITAL
APSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000445157 CLINVAR
  RCV001080382 CLINVAR
  RCV001573551 CLINVAR
  RCV002253432 CLINVAR
  RCV002488913 CLINVAR
dbSNP (RS) rs79074016 CLINVAR
MedGen C1846331 CLINVAR
  C1855722 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ACTB CLINVAR
OMIM 102630 CLINVAR
  243310 CLINVAR
  607371 CLINVAR