RGD:10057548 Rat Genome Database

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Variant: RGD:10057548 -  Homo sapiens

RGD ID: 10057548
RS ID: rs372689133
ClinVar ID: CV198559
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAFAZZIN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,649,048
GRCh38 X 154,420,709
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.154420709C>T
NC_000023.10:g.153649048C>T
NM_000116.3:c.751C>T
NP_000107.1:p.Arg251Trp
More... 		11/05/2018 missense variant|non-coding transcript variant uncertain significance 3-methylglutaconicaciduria type II; AllHighlyPenetrant; Barth syndrome; Cardioskeletal myopathy with neutropenia and abnormal mitochondria; MGA type II; none provided
Disease Annotations     Click to see Annotation Detail View
Barth syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:TAFAZZIN
Accession:XM_011531189
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGIGRLIAECHLNPIILPLW
HVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLEWLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_181312
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG
ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQK
GMDFILEKLNHGDWVHIFPEGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLEWLRA
ENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_006724837
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG
DWVHIFPEGIGRLIAECHLNPIILPLWHVGEPGDGDREMASGVGGLGLPLVPGCPAPPHVWPSVHCAAGMNDVLPNSPPY
FPRFGQKITVLIGKPFSALPVLEWLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_017029761
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 246
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG
ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFPEGIGRLIAECH
LNPIILPLWHVGEPGDGDREMASGVGGLGLPLVPGCPAPPHVWPSVHCAAGMNDVLPNSPPYFPRFGQKITVLIGKPFSA
LPVLEWLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_017029764
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQKGMDFILEKLNHGD
WVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLEWLR
AENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_000116
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG
ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQK
GMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIG
KPFSALPVLEWLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_047442408
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPSKWAGPAPPASAQICPPPALPRRTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFP
EGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLEWLRAENKSA
VEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_011531191
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQKGMDFILEKLNHG
DWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLEWL
RAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG
DWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLEWL
RAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_017029763
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG
ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRF
GQKITVLIGKPFSALPVLEWLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_181313
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG
ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFPEGIGRLIAECH
LNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLEWLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQL
HNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_001303465
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGR
HMPGAGKRREKGDGVYQKGMDFILEKLNHGDWVHIFPEGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKIT
VLIGKPFSALPVLEWLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_181311
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG
ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFL
RFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLEWLRAENKSAVEMRKALTDFI
QEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_001410698
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG
DWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLEWL
RAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_006724836
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGR
HMPGAGKRREKGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLP
NSPPYFPRFGQKITVLIGKPFSALPVLEWLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_006724839
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG
DWVHIFPEGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLEWLRAENKSAVEMRKAL
TDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_047442407
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPSKWAGPAPPASAQICPPPALPRRTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGK
RREKGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFP
RFGQKITVLIGKPFSALPVLEWLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

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

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000183910 CLINVAR
  RCV000609126 CLINVAR
  RCV000637295 CLINVAR
dbSNP (RS) rs372689133 CLINVAR
MedGen C0574083 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TAZ CLINVAR
OMIM 300394 CLINVAR
  302060 CLINVAR
SNOMED CT 297231002 CLINVAR