RGD:13482513 Rat Genome Database

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Variant: RGD:13482513 -  Homo sapiens

RGD ID: 13482513
RS ID: rs370057212
ClinVar ID: CV441080
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GARS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 30,655,651
GRCh38 7 30,616,035
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001316772.1:c.1009C>T
NM_002047.4:c.1171C>T
NM_002047.2:c.1171C>T
NP_001303701.1:p.Arg337Cys
More... 		04/07/2021 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Charcot-Marie-Tooth disease, axonal, Type 2D; Charcot-Marie-Tooth disease, neuronal, Type 2D; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth Neuropathy Type 2D; Charcot-Marie-Tooth, Type 2; CMT 2D; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GARS1
Accession:NM_001316772
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGAGAEEVLAPLRLAVRQQGDLVRKLKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVDRAKMEDTLKRRFFY
DQAFAIYGGVSGLYDFGPVGCALKNNIIQTWRQHFIQEEQILEIDCTMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRA
DHLLKAHLQKLMSDKKCSVEKKSEMESVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPG
YLRPETAQGIFLNFKRLLEFNQGKLPFAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEKDHPKFQNVADLHLY
LYSAKAQVSGQSARKMCLGDAVEQGVINNTVLGYFIGRIYLYLTKVGISPDKLRFRQHMENEMAHYACDCWDAESKTSYG
WIEIVGCADRSCYDLSCHARATKVPLVAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDECYITEMEMLL
NEKGEFTIETEGKTFQLTKDMINVKRFQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDEQRTFFSFPAVVAPF
KCSVLPLSQNQEFMPFVKELSEALTRHGVSHKVDDSSGSIGRRYARTDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQ
IRAEISELPSIVQDLANGNITWADVEARYPLFEGQETGKKETIEE*

Gene Symbol:GARS1
Accession:NM_002047
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 391
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPISLPAAASRSSMDGAGAEEVLAPLRLAVRQQGDLVRK
LKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVDRAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNN
IIQTWRQHFIQEEQILEIDCTMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLLKAHLQKLMSDKKCSVEKKSEME
SVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPETAQGIFLNFKRLLEFNQGKLP
FAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEKDHPKFQNVADLHLYLYSAKAQVSGQSARKMCLGDAVEQGV
INNTVLGYFIGRIYLYLTKVGISPDKLRFRQHMENEMAHYACDCWDAESKTSYGWIEIVGCADRSCYDLSCHARATKVPL
VAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDECYITEMEMLLNEKGEFTIETEGKTFQLTKDMINVKR
FQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDEQRTFFSFPAVVAPFKCSVLPLSQNQEFMPFVKELSEALTR
HGVSHKVDDSSGSIGRRYARTDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQIRAEISELPSIVQDLANGNITWADVE
ARYPLFEGQETGKKETIEE*
Variant Samples
Additional References at PubMed
PMID:24078732   PMID:26467025   PMID:26752306   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000653904 CLINVAR
  RCV000789778 CLINVAR
  RCV001591166 CLINVAR
  RCV002461270 CLINVAR
  RCV003447142 CLINVAR
dbSNP (RS) rs370057212 CLINVAR
MedGen C0007959 CLINVAR
  C0270914 CLINVAR
  C0950123 CLINVAR
  C1832274 CLINVAR
  C3661900 CLINVAR
NCBI Gene GARS CLINVAR
OMIM 600287 CLINVAR
  601472 CLINVAR
SNOMED CT 50548001 CLINVAR