RGD:12839663 Rat Genome Database

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Variant: RGD:12839663 -  Homo sapiens

RGD ID: 12839663
RS ID: rs769668781
ClinVar ID: CV378087
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 51,848,531
GRCh38 19 51,345,277
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.26142G>A
NC_000019.10:g.51345277C>T
NC_000019.9:g.51848531C>T
NP_001976.1:p.Thr234=
More... 		02/19/2018 synonymous variant likely benign AllHighlyPenetrant; Ethylmalonic-adipicaciduria; GA 2; GA II; Glutaric acidemia type 2; Glutaric acidemia type II; Glutaric aciduria, type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ETFB
Accession:XM_024451418
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFCEIAVEEAVRLKEKKLVKEVIAVSCGPAQCQETIRTALAMGADRGIHVEVPPAEAERLGPLQVARVLAKLAEKEKV
DLVLLGKQAIDDDCNQTGQMTAGFLDWPQGTFASQVTLEGDKLKVEREIDGGLETLRLKLPAVVTADLRLNEPRYATLPN
IMKAKKKKIEVIKPGDLGVDLTSKLSVISVEDPPQRTAGVKVETTEDLVAKLKEIGRI*

Gene Symbol:ETFB
Accession:NM_001985
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELRVLVAVKRVIDYAVKIRVKPDRTGVVTDGVKHSMNPFCEIAVEEAVRLKEKKLVKEVIAVSCGPAQCQETIRTALA
MGADRGIHVEVPPAEAERLGPLQVARVLAKLAEKEKVDLVLLGKQAIDDDCNQTGQMTAGFLDWPQGTFASQVTLEGDKL
KVEREIDGGLETLRLKLPAVVTADLRLNEPRYATLPNIMKAKKKKIEVIKPGDLGVDLTSKLSVISVEDPPQRTAGVKVE
TTEDLVAKLKEIGRI*

Gene Symbol:ETFB
Accession:NM_001014763
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 325
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYLSLWVTINTVNLRNTLSGLRGAVTTVGMIKSDVPGTQEWLDERRRQGDLPLPTNSNPVLSLELCDPGQGPAPFQAVVV
LIQPGRGLALRPPPSCLFPPDPTPSPPAGQIRVKPDRTGVVTDGVKHSMNPFCEIAVEEAVRLKEKKLVKEVIAVSCGPA
QCQETIRTALAMGADRGIHVEVPPAEAERLGPLQVARVLAKLAEKEKVDLVLLGKQAIDDDCNQTGQMTAGFLDWPQGTF
ASQVTLEGDKLKVEREIDGGLETLRLKLPAVVTADLRLNEPRYATLPNIMKAKKKKIEVIKPGDLGVDLTSKLSVISVED
PPQRTAGVKVETTEDLVAKLKEIGRI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000429243 CLINVAR
  RCV001480063 CLINVAR
dbSNP (RS) rs769668781 CLINVAR
MedGen C0268596 CLINVAR
  CN169374 CLINVAR
NCBI Gene ETFB CLINVAR
OMIM 130410 CLINVAR
  231680 CLINVAR
SNOMED CT 22886006 CLINVAR