RGD:14689167 Rat Genome Database

Variant: RGD:14689167 - Homo sapiens

RGD ID:

14689167

RS ID:

rs1569552726

ClinVar ID:

CV615182

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC129665026 TAFAZZIN

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	153,641,861
GRCh38	X	154,413,524

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_181311.4:c.327C>T NM_181312.4:c.327C>T NM_181313.4:c.327C>T NP_000107.1:p.His109= More...	08/11/2016	non-coding transcript variant\|synonymous variant	likely benign	3-methylglutaconicaciduria type II; Barth syndrome; Cardiomyopathies; Cardioskeletal myopathy with neutropenia and abnormal mitochondria; MGA type II

Disease Annotations Click to see Annotation Detail View

Barth syndrome (IAGP)

cardiomyopathy (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Cardiomyopathy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TAFAZZIN
Accession:	NM_001410698
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG DWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERL RAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	NM_000116
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQK GMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIG KPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	XM_017029761
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFPEGIGRLIAECH LNPIILPLWHVGEPGDGDREMASGVGGLGLPLVPGCPAPPHVWPSVHCAAGMNDVLPNSPPYFPRFGQKITVLIGKPFSA LPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	NM_001303465
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGR HMPGAGKRREKGDGVYQKGMDFILEKLNHGDWVHIFPEGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKIT VLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	XM_017029764
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQKGMDFILEKLNHGD WVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLR AENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	XM_011531191
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	17

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQKGMDFILEKLNHG DWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERL RAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	NM_181311
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFL RFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFI QEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	XM_006724839
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG DWVHIFPEGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKAL TDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	XM_047442407
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPSKWAGPAPPASAQICPPPALPRRTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGK RREKGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFP RFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	XM_047442408
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPSKWAGPAPPASAQICPPPALPRRTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFP EGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSA VEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	XM_006724836
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGR HMPGAGKRREKGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLP NSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	XM_017029763
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRF GQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	XM_011531189
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGIGRLIAECHLNPIILPLW HVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	NM_181313
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFPEGIGRLIAECH LNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQL HNHLQPGR*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG DWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERL RAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	NM_181312
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQK GMDFILEKLNHGDWVHIFPEGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRA ENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	XM_006724837
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG DWVHIFPEGIGRLIAECHLNPIILPLWHVGEPGDGDREMASGVGGLGLPLVPGCPAPPHVWPSVHCAAGMNDVLPNSPPY FPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:	TAFAZZIN
Accession:	NR_024048
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000770595	CLINVAR
	RCV003621571	CLINVAR
dbSNP (RS)	rs1569552726	CLINVAR
MedGen	C0574083	CLINVAR
	C0878544	CLINVAR
NCBI Gene	TAZ	CLINVAR
OMIM	300394	CLINVAR
	302060	CLINVAR
SNOMED CT	297231002	CLINVAR
	85898001	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:14689167 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:14689167 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar