RGD:15143440 Rat Genome Database

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Variant: RGD:15143440 -  Homo sapiens

RGD ID: 15143440
RS ID: rs199543540
ClinVar ID: CV773004
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFAF5  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 13,782,279
GRCh38 20 13,801,633
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001352408.2:c.667A>C
NM_001352406.2:c.106A>C
NM_001352407.2:c.106A>C
NM_001352403.2:c.196A>C
More... 		06/29/2021 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Necrotizing encephalopathy infantile subacute of Leigh; none provided; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View
Leigh disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:NDUFAF5
Accession:NM_024120
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTLTVD
TDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAE
RGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_047440471
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLCLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTL
TVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQAR
PAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_047440473
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCA
WNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:NM_001039375
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFIGAM
FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCAW
NRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:NM_001352408
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTLTVG
KALIDNV*

Gene Symbol:NDUFAF5
Accession:XM_047440472
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCA
WNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_047440470
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFIGAM
FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTLTVGKALIDNV*

Gene Symbol:NDUFAF5
Accession:NM_001352403
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLCLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTL
TVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQAR
PAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_011529342
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTLTVK
QGAWASRAPDVGKEPPGREELTGWRTRLGTEENPGGFTPVTSVDLLLTFKWPESIETAS*

Gene Symbol:NDUFAF5
Accession:NM_001352407
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCA
WNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_006723624
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLCLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTL
TVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQAR
PAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:NM_001352406
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCA
WNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_047440469
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVHDLGHLLGRAGFNTLTVD
TDEIQVNYPGMFELMEDLQEMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

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_147980
Location:EXON;NON-CODING

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000944245 CLINVAR
  RCV001279574 CLINVAR
dbSNP (RS) rs199543540 CLINVAR
MedGen C0023264 CLINVAR
  C3661900 CLINVAR
NCBI Gene NDUFAF5 CLINVAR
OMIM 256000 CLINVAR
  612360 CLINVAR
SNOMED CT 29570005 CLINVAR