RGD:10409221 Rat Genome Database

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Variant: RGD:10409221 -  Homo sapiens

RGD ID: 10409221
RS ID: rs369277594
ClinVar ID: CV211924
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130065433  NDUFAF5  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 13,765,828
GRCh38 20 13,785,182
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015811.1:g.5157C>A
NC_000020.11:g.13785182C>A
NC_000020.10:g.13765828C>A
NP_077025.2:p.Ser38Arg
More... 		08/05/2022 5 prime utr variant|missense variant likely pathogenic|uncertain significance Complex 1 mitochondrial respiratory chain deficiency; NADH coenzyme Q reductase deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NDUFAF5
Accession:NM_001352407
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:NM_001352403
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:NM_001352406
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:XM_006723624
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:NM_024120
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGRTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD
TDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAE
RGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:NM_001039375
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGRTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFIGAM
FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCAW
NRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_047440469
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGRTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD
TDEIQVNYPGMFELMEDLQEMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_011529342
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGRTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVK
QGAWASRAPDVGKEPPGREELTGWRTRLGTEENPGGFTPVTSVDLLLTFKWPESIETAS*

Gene Symbol:NDUFAF5
Accession:XM_047440470
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGRTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFIGAM
FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVGKALIDNV*

Gene Symbol:NDUFAF5
Accession:NM_001352408
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGRTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVG
KALIDNV*

Gene Symbol:NDUFAF5
Accession:NR_147982
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:XR_937140
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147981
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_029377
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147979
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147980
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147978
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147983
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:XM_047440472
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440473
Location:INTRON

Gene Symbol:NDUFAF5
Accession:XM_047440471
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000195674 CLINVAR
  RCV001835721 CLINVAR
dbSNP (RS) rs369277594 CLINVAR
MedGen C1838979 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC130065433 CLINVAR
  NDUFAF5 CLINVAR
OMIM 612360 CLINVAR