RGD:28868541 Rat Genome Database

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Pathways
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Variant: RGD:28868541 -  Homo sapiens

RGD ID: 28868541
RS ID: rs1782883200
ClinVar ID: CV897979
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GARS1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 30,655,623
GRCh38 7 30,616,007
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002047.4:c.1143G>C
NM_001316772.1:c.981G>C
LRG_243:g.26443G>C
NM_002047.2:c.1143G>C
More... 		01/13/2018 missense variant uncertain significance Charcot-Marie-Tooth disease, axonal, Type 2D; Charcot-Marie-Tooth disease, neuronal, Type 2D; Charcot-Marie-Tooth Neuropathy Type 2D; CMT 2D; DHMN VA; Distal hereditary motor neuropathy; Distal Spinal Muscular Atrophy V; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GARS1
Accession:NM_002047
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPISLPAAASRSSMDGAGAEEVLAPLRLAVRQQGDLVRK
LKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVDRAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNN
IIQTWRQHFIQEEQILEIDCTMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLLKAHLQKLMSDKKCSVEKKSEME
SVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPETAQGIFLNFKRLLEFNQGKLP
FAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEKDHPKFQNVADLHLYLYSAKAHVSGQSARKMRLGDAVEQGV
INNTVLGYFIGRIYLYLTKVGISPDKLRFRQHMENEMAHYACDCWDAESKTSYGWIEIVGCADRSCYDLSCHARATKVPL
VAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDECYITEMEMLLNEKGEFTIETEGKTFQLTKDMINVKR
FQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDEQRTFFSFPAVVAPFKCSVLPLSQNQEFMPFVKELSEALTR
HGVSHKVDDSSGSIGRRYARTDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQIRAEISELPSIVQDLANGNITWADVE
ARYPLFEGQETGKKETIEE*

Gene Symbol:GARS1
Accession:NM_001316772
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 327
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGAGAEEVLAPLRLAVRQQGDLVRKLKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVDRAKMEDTLKRRFFY
DQAFAIYGGVSGLYDFGPVGCALKNNIIQTWRQHFIQEEQILEIDCTMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRA
DHLLKAHLQKLMSDKKCSVEKKSEMESVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPG
YLRPETAQGIFLNFKRLLEFNQGKLPFAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEKDHPKFQNVADLHLY
LYSAKAHVSGQSARKMRLGDAVEQGVINNTVLGYFIGRIYLYLTKVGISPDKLRFRQHMENEMAHYACDCWDAESKTSYG
WIEIVGCADRSCYDLSCHARATKVPLVAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDECYITEMEMLL
NEKGEFTIETEGKTFQLTKDMINVKRFQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDEQRTFFSFPAVVAPF
KCSVLPLSQNQEFMPFVKELSEALTRHGVSHKVDDSSGSIGRRYARTDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQ
IRAEISELPSIVQDLANGNITWADVEARYPLFEGQETGKKETIEE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001162553 CLINVAR
  RCV001162554 CLINVAR
  RCV001162555 CLINVAR
dbSNP (RS) rs1782883200 CLINVAR
MedGen C0393541 CLINVAR
  C1832274 CLINVAR
  C5399969 CLINVAR
NCBI Gene GARS1 CLINVAR
OMIM 600287 CLINVAR
  600794 CLINVAR
  601472 CLINVAR
SNOMED CT 230247001 CLINVAR