RGD:15130722 Rat Genome Database

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Variant: RGD:15130722 -  Homo sapiens

RGD ID: 15130722
RS ID: rs145793213
ClinVar ID: CV683920
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTB  LOC127408413  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 5,567,994
GRCh38 7 5,528,363
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007992.1:g.7239C>T
NC_000007.14:g.5528363G>A
NC_000007.13:g.5567994G>A
NM_001101.3:c.720C>T
More... 		11/06/2020 synonymous variant likely benign 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: Y to Y (synonymous)
Amino Acid Position: 240
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWD
DMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVT
HTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSY
ELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITAL
APSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000863482 CLINVAR
  RCV001505304 CLINVAR
dbSNP (RS) rs145793213 CLINVAR
MedGen C1855722 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACTB CLINVAR
OMIM 102630 CLINVAR
  243310 CLINVAR