rs774810601 Rat Genome Database

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Variant: rs774810601 -  Homo sapiens

RGD ID: 28870320
RS ID: rs774810601
ClinVar ID: CV890358
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFDH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 159,627,795
GRCh38 4 158,706,643
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001281738.1:c.1300C>T
NC_000004.12:g.158706643C>T
NP_001268666.1:p.Arg448Trp
NM_004453.2:c.1483C>T
More... 		03/21/2023 missense variant uncertain significance 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:ETFDH
Accession:NM_001281738
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERFAEEADVVIVGAGPAGLSAAVRLKQLAVAHEKDIRVCLVEKAAQIGAHTLSGACLDPGAFKELFPDWKEKGAPLNTP
VTEDRFGILTEKYRIPVPILPGLPMNNHGNYIVRLGHLVSWMGEQAEALGVEVYPGYAAAEVLFHDDGSVKGIATNDVGI
QKDGAPKATFERGLELHAKVTIFAEGCHGHLAKQLYKKFDLRANCEPQTYGIGLKELWVIDEKNWKPGRVDHTVGWPLDR
HTYGGSFLYHLNEGEPLVALGLVVGLDYQNPYLSPFREFQRWKHHPSIRPTLEGGKRIAYGARALNEGGFQSIPKLTFPG
GLLIGCSPGFMNVPKIKGTHTAMKSGILAAESIFNQLTSENLQSKTIGLHVTEYEDNLKNSWVWKELYSVRNIRPSCHGV
LGVYGGMIYTGIFYWILRGMEPWTLKHKGSDFEWLKPAKDCTPIEYPKPDGQISFDLLSSVALSGTNHEHDQPAHLTLRD
DSIPVNRNLSIYDGPEQRFCPAGVYEFVPVEQGDGFRLQINAQNCVHCKTCDIKDPSQNINWVVPEGGGGPAYNGM*

Gene Symbol:ETFDH
Accession:NM_001281737
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 448
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVPLAKLSCLGVNMERFAEEADVVIVGAGPAGLSAAVRLKQLAVAHEKDIRVCLVEKAAQIGAHTLSGACLDPGAFKEL
FPDWKEKGAPLNTPVTEDRFGILTEKYRIPVPILPGLPMNNHGNYIVRLGHLVSWMGEQAEALGVEVYPGYAAAEVLFHD
DGSVKGIATNDVGIQKDGAPKATFERGLELHAKVTIFAEGCHGHLAKQLYKKFDLRANCEPQTYGIGLKELWVIDEKNWK
PGRVDHTVGWPLDRHTYGGSFLYHLNEGEPLVALGLVVGLDYQNPYLSPFREFQRWKHHPSIRPTLEGGKRIAYGARALN
EGGFQSIPKLTFPGGLLIGCSPGFMNVPKIKGTHTAMKSGILAAESIFNQLTSENLQSKTIGLHVTEYEDNLKNSWVWKE
LYSVRNIRPSCHGVLGVYGGMIYTGIFYWILRGMEPWTLKHKGSDFEWLKPAKDCTPIEYPKPDGQISFDLLSSVALSGT
NHEHDQPAHLTLRDDSIPVNRNLSIYDGPEQRFCPAGVYEFVPVEQGDGFRLQINAQNCVHCKTCDIKDPSQNINWVVPE
GGGGPAYNGM*

Gene Symbol:ETFDH
Accession:NM_004453
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 495
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVPLAKLSCLAYQCFHALKIKKNYLPLCATRWSSTSTVPRITTHYTIYPRDKDKRWEGVNMERFAEEADVVIVGAGPAG
LSAAVRLKQLAVAHEKDIRVCLVEKAAQIGAHTLSGACLDPGAFKELFPDWKEKGAPLNTPVTEDRFGILTEKYRIPVPI
LPGLPMNNHGNYIVRLGHLVSWMGEQAEALGVEVYPGYAAAEVLFHDDGSVKGIATNDVGIQKDGAPKATFERGLELHAK
VTIFAEGCHGHLAKQLYKKFDLRANCEPQTYGIGLKELWVIDEKNWKPGRVDHTVGWPLDRHTYGGSFLYHLNEGEPLVA
LGLVVGLDYQNPYLSPFREFQRWKHHPSIRPTLEGGKRIAYGARALNEGGFQSIPKLTFPGGLLIGCSPGFMNVPKIKGT
HTAMKSGILAAESIFNQLTSENLQSKTIGLHVTEYEDNLKNSWVWKELYSVRNIRPSCHGVLGVYGGMIYTGIFYWILRG
MEPWTLKHKGSDFEWLKPAKDCTPIEYPKPDGQISFDLLSSVALSGTNHEHDQPAHLTLRDDSIPVNRNLSIYDGPEQRF
CPAGVYEFVPVEQGDGFRLQINAQNCVHCKTCDIKDPSQNINWVVPEGGGGPAYNGM*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001145313 CLINVAR
  RCV003246722 CLINVAR
dbSNP (RS) rs774810601 CLINVAR
MedGen C0268596 CLINVAR
  C0950123 CLINVAR
NCBI Gene ETFDH CLINVAR
OMIM 231675 CLINVAR
  231680 CLINVAR
SNOMED CT 22886006 CLINVAR