RGD:401756394 Rat Genome Database

RGD:401756394 Rat Genome Database

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Variant: RGD:401756394 - Homo sapiens

RGD ID:

401756394

ClinVar ID:

CV2687127

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	20	13,782,205
GRCh38	20	13,801,559

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001352403.2:c.122G>A NM_001352406.2:c.32G>A NM_001352407.2:c.32G>A NM_001039375.3:c.509G>A More...	05/23/2023	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2687127	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	NDUFAF5
Accession:	NM_001352407
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	11

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCA WNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	XM_047440472
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	11

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCA WNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	XM_047440473
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	11

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCA WNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	NM_001352403
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	41

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLCLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTL TVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQAR PAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	XM_047440471
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	41

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLCLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTL TVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQAR PAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	NM_001352408
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVG KALIDNV*

Gene Symbol:	NDUFAF5
Accession:	XM_006723624
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	41

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLCLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTL TVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQAR PAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	NM_001039375
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	170

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFIGAM FGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCAW NRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	XM_011529342
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVK QGAWASRAPDVGKEPPGREELTGWRTRLGTEENPGGFTPVTSVDLLLTFKWPESIETAS*

Gene Symbol:	NDUFAF5
Accession:	XM_047440469
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD TDEIQVNYPGMFELMEDLQEMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	XM_047440470
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	170

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFIGAM FGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVGKALIDNV*

Gene Symbol:	NDUFAF5
Accession:	NM_024120
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD TDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAE RGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	NM_001352406
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	11

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFGGDTLYELQCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCA WNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

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_147979
Location:	EXON;NON-CODING

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

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

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

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

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV003255629	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	NDUFAF5	CLINVAR
OMIM	612360	CLINVAR