RGD:12833190 Rat Genome Database

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Variant: RGD:12833190 -  Homo sapiens

RGD ID: 12833190
RS ID: rs762624758
ClinVar ID: CV369140
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GARS1  LOC127408796  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 30,634,606
GRCh38 7 30,594,990
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_243:g.5426G>A
NG_007942.1:g.5426G>A
NC_000007.14:g.30594990G>A
NC_000007.13:g.30634606G>A
More... 		07/11/2019 5 prime utr variant|synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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: R to R (synonymous)
Amino Acid Position: 23
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 RCV000418046 CLINVAR
  RCV000512778 CLINVAR
  RCV002521702 CLINVAR
dbSNP (RS) rs762624758 CLINVAR
MedGen C0270914 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GARS CLINVAR
OMIM 600287 CLINVAR