RGD:10401587 Rat Genome Database

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Variant: RGD:10401587 -  Homo sapiens

RGD ID: 10401587
RS ID: rs797044950
ClinVar ID: CV205254
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTB  LOC127408413  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 5,568,177
GRCh38 7 5,528,546
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_132t1:c.537C>G
LRG_132:g.7056C>G
NG_007992.1:g.7056C>G
NC_000007.14:g.5528546G>C
More... 		08/20/2021 missense variant pathogenic|uncertain significance 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: D to E (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVT
HTVPIYEGYALPHAILRLELAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSY
ELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITAL
APSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF*
Variant Samples
Additional References at PubMed
PMID:26713879   PMID:26795593   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000190802 CLINVAR
  RCV001852536 CLINVAR
dbSNP (RS) rs797044950 CLINVAR
MedGen C0950123 CLINVAR
  C1855722 CLINVAR
NCBI Gene ACTB CLINVAR
OMIM 102630 CLINVAR
  243310 CLINVAR