RGD:127236063 Rat Genome Database

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Variant: RGD:127236063 -  Homo sapiens

RGD ID: 127236063
RS ID: rs1199767012
ClinVar ID: CV1106887
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFAF5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 13,782,284
GRCh38 20 13,801,638
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001039375.3:c.588C>T
NR_147983.2:n.763C>T
NR_147981.2:n.847C>T
NR_147982.2:n.847C>T
More... 		10/18/2021 non-coding transcript variant likely benign 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:XM_047440469
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD
TDEIQVNYPGMFELMEDLQEMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_011529342
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVK
QGAWASRAPDVGKEPPGREELTGWRTRLGTEENPGGFTPVTSVDLLLTFKWPESIETAS*

Gene Symbol:NDUFAF5
Accession:NM_001039375
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFIGAM
FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCAW
NRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:NM_024120
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD
TDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAE
RGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_047440472
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCA
WNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_047440471
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLCLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTL
TVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQAR
PAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_047440473
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCA
WNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:NM_001352406
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCA
WNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:NM_001352403
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLCLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTL
TVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQAR
PAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_006723624
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLCLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTL
TVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQAR
PAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:NM_001352408
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVG
KALIDNV*

Gene Symbol:NDUFAF5
Accession:XM_047440470
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFIGAM
FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVGKALIDNV*

Gene Symbol:NDUFAF5
Accession:NM_001352407
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCA
WNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

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

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

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

Gene Symbol:NDUFAF5
Accession:XR_937140
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_147981
Location:EXON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001433257 CLINVAR
  RCV001826246 CLINVAR
dbSNP (RS) rs1199767012 CLINVAR
MedGen C1838979 CLINVAR
  C3661900 CLINVAR
NCBI Gene NDUFAF5 CLINVAR
OMIM 612360 CLINVAR