RGD:156390900 Rat Genome Database

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Variant: RGD:156390900 - Homo sapiens

RGD ID:

156390900

ClinVar ID:

CV1872738

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DNASE1L1 LOC130068869 TAFAZZIN

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	153,640,222
GRCh38	X	154,411,885

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
LRG_131t1:c.42G>T NM_001009933.3:c.-173+6C>A NM_001009932.3:c.-431+6C>A NM_001009934.3:c.-88+6C>A More...	03/18/2022	intron variant	likely benign	3-methylglutaconicaciduria type II; Barth syndrome; Cardioskeletal myopathy with neutropenia and abnormal mitochondria; MGA type II

Disease Annotations Click to see Annotation Detail View

Barth syndrome (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	DNASE1L1
Accession:	NM_001009932
Location:	5UTRS;INTRON

Gene Symbol:	DNASE1L1
Accession:	XM_047441892
Location:	5UTRS;INTRON

Gene Symbol:	DNASE1L1
Accession:	XM_005277829
Location:	5UTRS;INTRON

Gene Symbol:	DNASE1L1
Accession:	XM_047441891
Location:	5UTRS;INTRON

Gene Symbol:	DNASE1L1
Accession:	NM_001009933
Location:	5UTRS;INTRON

Gene Symbol:	DNASE1L1
Accession:	XM_017029332
Location:	5UTRS;INTRON

Gene Symbol:	DNASE1L1
Accession:	XM_047441890
Location:	5UTRS;INTRON

Gene Symbol:	DNASE1L1
Accession:	NM_001009934
Location:	5UTRS;INTRON

Gene Symbol:	DNASE1L1
Accession:	XM_047441893
Location:	5UTRS;INTRON

Gene Symbol:	TAFAZZIN
Accession:	XM_006724839
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

Gene Symbol:	TAFAZZIN
Accession:	XM_011531189
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

Gene Symbol:	TAFAZZIN
Accession:	XM_017029763
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

Gene Symbol:	TAFAZZIN
Accession:	NM_181311
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

Gene Symbol:	TAFAZZIN
Accession:	NM_181312
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

Gene Symbol:	TAFAZZIN
Accession:	XM_006724837
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

Gene Symbol:	TAFAZZIN
Accession:	NM_181313
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

Gene Symbol:	TAFAZZIN
Accession:	NM_001303465
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

Gene Symbol:	TAFAZZIN
Accession:	XM_017029761
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

Gene Symbol:	TAFAZZIN
Accession:	NM_001410698
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

Gene Symbol:	TAFAZZIN
Accession:	XM_006724836
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

Gene Symbol:	TAFAZZIN
Accession:	NM_000116
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	14

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

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

Gene Symbol:	TAFAZZIN
Accession:	XM_047442408
Location:	INTRON

Gene Symbol:	DNASE1L1
Accession:	NM_001303620
Location:	INTRON

Gene Symbol:	DNASE1L1
Accession:	NM_006730
Location:	INTRON

Gene Symbol:	TAFAZZIN
Accession:	XM_047442407
Location:	INTRON

Gene Symbol:	TAFAZZIN
Accession:	XM_011531191
Location:	INTRON

Gene Symbol:	TAFAZZIN
Accession:	XM_017029764
Location:	INTRON

Gene Symbol:	DNASE1L1
Accession:	XR_007068182
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV003051305	CLINVAR
MedGen	C0574083	CLINVAR
NCBI Gene	DNASE1L1	CLINVAR
	LOC130068869	CLINVAR
	TAFAZZIN	CLINVAR
OMIM	300081	CLINVAR
	300394	CLINVAR
	302060	CLINVAR
SNOMED CT	297231002	CLINVAR

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

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

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Variant: RGD:156390900 - Homo sapiens

Imported Disease Annotations - ClinVar