RGD:12743015 Rat Genome Database

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Variant: RGD:12743015 -  Homo sapiens

RGD ID: 12743015
RS ID: rs1057519166
ClinVar ID: CV361488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GARS1  LOC127408796  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 30,634,627
GRCh38 7 30,595,011
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_243:g.5447C>T
NG_007942.1:g.5447C>T
NC_000007.14:g.30595011C>T
NC_000007.13:g.30634627C>T
More... 		12/31/2019 5 prime utr variant|synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Charcot-Marie-Tooth, Type 2; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GARS1
Accession:NM_001316772
Location:5UTRS;EXON

Gene Symbol:GARS1
Accession:NM_002047
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPISLPAAASRSSMDGAGAEEVLAPLRLAVRQQGDLVRK
LKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVDRAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNN
IIQTWRQHFIQEEQILEIDCTMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLLKAHLQKLMSDKKCSVEKKSEME
SVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPETAQGIFLNFKRLLEFNQGKLP
FAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEKDHPKFQNVADLHLYLYSAKAQVSGQSARKMRLGDAVEQGV
INNTVLGYFIGRIYLYLTKVGISPDKLRFRQHMENEMAHYACDCWDAESKTSYGWIEIVGCADRSCYDLSCHARATKVPL
VAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDECYITEMEMLLNEKGEFTIETEGKTFQLTKDMINVKR
FQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDEQRTFFSFPAVVAPFKCSVLPLSQNQEFMPFVKELSEALTR
HGVSHKVDDSSGSIGRRYARTDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQIRAEISELPSIVQDLANGNITWADVE
ARYPLFEGQETGKKETIEE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000415883 CLINVAR
  RCV001089151 CLINVAR
  RCV002461137 CLINVAR
dbSNP (RS) rs1057519166 CLINVAR
MedGen C0270914 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene GARS CLINVAR
OMIM 600287 CLINVAR