RGD:156004021 Rat Genome Database

RGD:156004021 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: RGD:156004021 - Homo sapiens

RGD ID:

156004021

ClinVar ID:

CV2179315

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	20	13,797,170
GRCh38	20	13,816,524

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001034464.1:p.Leu252= NP_077025.2:p.Leu280= NP_001339335.1:p.Leu93= NP_001339336.1:p.Leu93= More...	03/24/2022	non-coding transcript variant	likely benign	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	NDUFAF5
Accession:	NM_024120
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	280

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

Gene Symbol:	NDUFAF5
Accession:	NM_001352403
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	123

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

Gene Symbol:	NDUFAF5
Accession:	XM_047440472
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	93

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

Gene Symbol:	NDUFAF5
Accession:	NM_001352406
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	93

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

Gene Symbol:	NDUFAF5
Accession:	XM_047440473
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	93

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

Gene Symbol:	NDUFAF5
Accession:	NM_001039375
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	252

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

Gene Symbol:	NDUFAF5
Accession:	NM_001352407
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	93

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

Gene Symbol:	NDUFAF5
Accession:	XM_047440471
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	123

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

Gene Symbol:	NDUFAF5
Accession:	XM_006723624
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	123

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

Gene Symbol:	NDUFAF5
Accession:	NR_147979
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_147983
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:	NR_029377
Location:	EXON;NON-CODING

Gene Symbol:	NDUFAF5
Accession:	XM_011529342
Location:	INTRON

Gene Symbol:	NDUFAF5
Accession:	NM_001352408
Location:	INTRON

Gene Symbol:	NDUFAF5
Accession:	XM_047440470
Location:	INTRON

Gene Symbol:	NDUFAF5
Accession:	XM_047440469
Location:	INTRON

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003034908	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	NDUFAF5	CLINVAR
OMIM	612360	CLINVAR