RGD:11523026 Rat Genome Database

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Variant: RGD:11523026 -  Homo sapiens

RGD ID: 11523026
RS ID: rs879253867
ClinVar ID: CV244154
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIMP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 107,249,343
GRCh38 4 106,328,186
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_028166.1:g.17577C>T
NC_000004.12:g.106328186C>T
NC_000004.11:g.107249343C>T
NP_001135887.1:p.Gln112Ter
More... 		05/03/2020 nonsense pathogenic infancy|neonatal none provided; Perinatal Sudanophilic leukodystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AIMP1
Accession:NM_001142416
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANNDAVLKRLEQKGAEADQIIEYLKQQVSLLKEKAILQATLREEKKLRVENAKLKKEIEELKQELIQAEIQNGVKQIPF
PSGTPLHANSMVSENVIQSTAVTTVSSGTKE*IKGGTGDEKKAKEKIEKKGEKKEKKQQSIAGSADSKPIDVSRLDLRIG
CIITARKHPDADSLYVEEVDVGEIAPRTVVSGLVNHVPLEQMQNRMVILLCNLKPAKMRGVLSQAMVMCASSPEKIEILA
PPNGSVPGDRITFDAFPGEPDKELNPKKKIWEQIQPDLHTNDECVATYKGVPFEVKGKGVCRAQTMSNSGIK*

Gene Symbol:AIMP1
Accession:XM_047416410
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANNDAVLKRLEQKGAEADQIIEYLKQQVSLLKEKAILQATLREEKKLRVENAKLKKEIEELKQELIQAEIQNGVKQIPF
PSGTPLHANSMVSENVIQSTAVTTVSSGTKE*IKGGTGDEKKAKEKIEKKGEKKEKKQQSIAGSADSKPIDVSRLDLRIG
CIITARKHPDADSLYVEEVDVGEIAPRTVVSGLVNHVPLEQMQNRMVILLCNLKPAKMRGVLSQAMVMCASSPEKIEILA
PPNGSVPGDRITFDAFPGEPDKELNPKKKIWEQIQPDLHTNDECVATYKGVPFEVKGKGVCRAQTMSNSGIK*

Gene Symbol:AIMP1
Accession:NM_001142415
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANNDAVLKRLEQKGAEADQIIEYLKQQVSLLKEKAILQATLREEKKLRVENAKLKKEIEELKQELIQAEIQNGVKQIPF
PSGTPLHANSMVSENVIQSTAVTTVSSGTKE*IKGGTGDEKKAKEKIEKKGEKKEKKQQSIAGSADSKPIDVSRLDLRIG
CIITARKHPDADSLYVEEVDVGEIAPRTVVSGLVNHVPLEQMQNRMVILLCNLKPAKMRGVLSQAMVMCASSPEKIEILA
PPNGSVPGDRITFDAFPGEPDKELNPKKKIWEQIQPDLHTNDECVATYKGVPFEVKGKGVCRAQTMSNSGIK*

Gene Symbol:AIMP1
Accession:NM_004757
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANNDAVLKRLEQKGAEADQIIEYLKQQVSLLKEKAILQATLREEKKLRVENAKLKKEIEELKQELIQAEIQNGVKQIPF
PSGTPLHANSMVSENVIQSTAVTTVSSGTKE*IKGGTGDEKKAKEKIEKKGEKKEKKQQSIAGSADSKPIDVSRLDLRIG
CIITARKHPDADSLYVEEVDVGEIAPRTVVSGLVNHVPLEQMQNRMVILLCNLKPAKMRGVLSQAMVMCASSPEKIEILA
PPNGSVPGDRITFDAFPGEPDKELNPKKKIWEQIQPDLHTNDECVATYKGVPFEVKGKGVCRAQTMSNSGIK*

Gene Symbol:AIMP1
Accession:XM_017008835
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANNDAVLKRLEQKGAEADQIIEYLKQQVSLLKEKAILQATLREEKKLRVENAKLKKEIEELKQELIQAEIQNGVKQIPF
PSGTPLHANSMVSENVIQSTAVTTVSSGTKE*IKGGTGDEKKAKEKIEKKGEKKEKKQQSIAGSADSKPIDVSRLDLRIG
CIITARKHPDADSLYVEEVDVGEIAPRTVVSGLVNHVPLEQMQNRMVILLCNLKPAKMRGVLSQAMVMCASSPEKIEILA
PPNGSVPGDRITFDAFPGEPDKELNPKKKIWEQIQPDLHTNDECVATYKGVPFEVKGKGVCRAQTMSNSGIK*
Variant Samples
Additional References at PubMed
PMID:23806086   PMID:24088041   PMID:25741868   PMID:26257172  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000235084 CLINVAR
  RCV001170057 CLINVAR
dbSNP (RS) rs879253867 CLINVAR
MedGen C1850053 CLINVAR
  CN517202 CLINVAR
NCBI Gene AIMP1 CLINVAR
OMIM 260600 CLINVAR
  603605 CLINVAR