rs531254130 Rat Genome Database

rs531254130 Rat Genome Database

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Variant: rs531254130 - Homo sapiens

RGD ID:

11059988

RS ID:

rs531254130

ClinVar ID:

CV226976

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC130065433 NDUFAF5

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	20	13,765,869
GRCh38	20	13,785,223

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001034464.1:p.Lys52Thr NP_001339337.1:p.Lys52Thr NG_015811.1:g.5198A>C NC_000020.11:g.13785223A>C More...	03/26/2022	5 prime utr variant\|missense variant	pathogenic\|likely pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV226976	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868\|PMID:30473481
CV226976	Human	nuclear type mitochondrial complex I deficiency 16		IAGP		8554872	ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	ClinVar	PMID:25741868\|PMID:30473481

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

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

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

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

Gene Symbol:	NDUFAF5
Accession:	NM_024120
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLTRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD TDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAE RGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	NM_001039375
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLTRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFIGAM FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCAW NRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	XM_011529342
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLTRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVK QGAWASRAPDVGKEPPGREELTGWRTRLGTEENPGGFTPVTSVDLLLTFKWPESIETAS*

Gene Symbol:	NDUFAF5
Accession:	NM_001352408
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLTRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVG KALIDNV*

Gene Symbol:	NDUFAF5
Accession:	XM_047440469
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLTRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD TDEIQVNYPGMFELMEDLQEMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	XM_047440470
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLTRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFIGAM FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVGKALIDNV*

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

Gene Symbol:	NDUFAF5
Accession:	XM_047440472
Location:	INTRON

Gene Symbol:	NDUFAF5
Accession:	XM_047440471
Location:	INTRON

Gene Symbol:	NDUFAF5
Accession:	XM_047440473
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:30473481

Database	Acc Id	Source(s)
ClinVar	RCV000210596	CLINVAR
	RCV001507282	CLINVAR
dbSNP (RS)	rs531254130	CLINVAR
MedGen	C0950123	CLINVAR
	C4748785	CLINVAR
NCBI Gene	LOC130065433	CLINVAR
	NDUFAF5	CLINVAR
OMIM	612360	CLINVAR
	618238	CLINVAR
OMIM Allele	612360.0006	CLINVAR