RGD:13814900 Rat Genome Database

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Variant: RGD:13814900 -  Homo sapiens

RGD ID: 13814900
RS ID: rs376065198
ClinVar ID: CV572774
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 51,850,186
GRCh38 19 51,346,932
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007115.1:g.24487G>A
NC_000019.10:g.51346932C>T
NC_000019.9:g.51850186C>T
NP_001976.1:p.Glu189Lys
More... 		10/25/2018 missense variant likely benign|uncertain significance Ethylmalonic-adipicaciduria; GA 2; GA II; Glutaric acidemia type 2; Glutaric acidemia type II; Glutaric aciduria, type 2; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ETFB
Accession:NM_001014763
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYLSLWVTINTVNLRNTLSGLRGAVTTVGMIKSDVPGTQEWLDERRRQGDLPLPTNSNPVLSLELCDPGQGPAPFQAVVV
LIQPGRGLALRPPPSCLFPPDPTPSPPAGQIRVKPDRTGVVTDGVKHSMNPFCEIAVEEAVRLKEKKLVKEVIAVSCGPA
QCQETIRTALAMGADRGIHVEVPPAEAERLGPLQVARVLAKLAEKEKVDLVLLGKQAIDDDCNQTGQMTAGFLDWPQGTF
ASQVTLEGDKLKVEREIDGGLETLRLKLPAVVTADLRLNKPRYATLPNIMKAKKKKIEVIKPGDLGVDLTSKLSVISVED
PPQRTAGVKVETTEDLVAKLKEIGRI*

Gene Symbol:ETFB
Accession:XM_024451418
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFCEIAVEEAVRLKEKKLVKEVIAVSCGPAQCQETIRTALAMGADRGIHVEVPPAEAERLGPLQVARVLAKLAEKEKV
DLVLLGKQAIDDDCNQTGQMTAGFLDWPQGTFASQVTLEGDKLKVEREIDGGLETLRLKLPAVVTADLRLNKPRYATLPN
IMKAKKKKIEVIKPGDLGVDLTSKLSVISVEDPPQRTAGVKVETTEDLVAKLKEIGRI*

Gene Symbol:ETFB
Accession:NM_001985
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRVLVAVKRVIDYAVKIRVKPDRTGVVTDGVKHSMNPFCEIAVEEAVRLKEKKLVKEVIAVSCGPAQCQETIRTALA
MGADRGIHVEVPPAEAERLGPLQVARVLAKLAEKEKVDLVLLGKQAIDDDCNQTGQMTAGFLDWPQGTFASQVTLEGDKL
KVEREIDGGLETLRLKLPAVVTADLRLNKPRYATLPNIMKAKKKKIEVIKPGDLGVDLTSKLSVISVEDPPQRTAGVKVE
TTEDLVAKLKEIGRI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000691202 CLINVAR
  RCV001551852 CLINVAR
dbSNP (RS) rs376065198 CLINVAR
MedGen C0268596 CLINVAR
  C3661900 CLINVAR
NCBI Gene ETFB CLINVAR
OMIM 130410 CLINVAR
  231680 CLINVAR
SNOMED CT 22886006 CLINVAR