RGD:156397728 Rat Genome Database

RGD:156397728 Rat Genome Database

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Variant: RGD:156397728 - Homo sapiens

RGD ID:

156397728

ClinVar ID:

CV2197485

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	20	13,782,168
GRCh38	20	13,801,522

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001352406.2:c.-6G>A NM_001352407.2:c.-6G>A NM_001039375.3:c.472G>A NM_001352408.2:c.556G>A More...	10/06/2021	5 prime utr variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2197485	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	NDUFAF5
Accession:	NM_001352407
Location:	5UTRS;EXON

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

Gene Symbol:	NDUFAF5
Accession:	XM_047440472
Location:	5UTRS;EXON

Gene Symbol:	NDUFAF5
Accession:	XM_047440473
Location:	5UTRS;EXON

Gene Symbol:	NDUFAF5
Accession:	NM_024120
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	186

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

Gene Symbol:	NDUFAF5
Accession:	NM_001039375
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	158

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFISAM FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCAW NRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	XM_006723624
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	29

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

Gene Symbol:	NDUFAF5
Accession:	XM_011529342
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	186

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

Gene Symbol:	NDUFAF5
Accession:	NM_001352403
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	29

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

Gene Symbol:	NDUFAF5
Accession:	NM_001352408
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	186

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

Gene Symbol:	NDUFAF5
Accession:	XM_047440469
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	186

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

Gene Symbol:	NDUFAF5
Accession:	XM_047440470
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	158

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFISAM FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVGKALIDNV*

Gene Symbol:	NDUFAF5
Accession:	XM_047440471
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	29

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

Gene Symbol:	NDUFAF5
Accession:	NR_029377
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_147982
Location:	EXON;NON-CODING

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

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

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

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV002655247	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	NDUFAF5	CLINVAR
OMIM	612360	CLINVAR