RGD:14735902 Rat Genome Database

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Variant: RGD:14735902 -  Homo sapiens

RGD ID: 14735902
RS ID: rs1603381860
ClinVar ID: CV649892
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127898532  TAFAZZIN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,648,601
GRCh38 X 154,420,262
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_181313.4:c.565C>T
NM_181311.4:c.607C>T
NM_181312.4:c.655C>T
NM_000116.5:c.697C>T
More... 		01/09/2019 non-coding transcript variant|nonsense pathogenic 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:TAFAZZIN
Accession:NM_181312
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG
ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQK
GMDFILEKLNHGDWVHIFPEGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFG*KITVLIGKPFSALPVLERLRA
ENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_047442408
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPSKWAGPAPPASAQICPPPALPRRTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFP
EGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFG*KITVLIGKPFSALPVLERLRAENKSA
VEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_001303465
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGR
HMPGAGKRREKGDGVYQKGMDFILEKLNHGDWVHIFPEGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFG*KIT
VLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_181311
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG
ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFL
RFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFG*KITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFI
QEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_006724836
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGR
HMPGAGKRREKGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLP
NSPPYFPRFG*KITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_006724837
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 246
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG
DWVHIFPEGIGRLIAECHLNPIILPLWHVGEPGDGDREMASGVGGLGLPLVPGCPAPPHVWPSVHCAAGMNDVLPNSPPY
FPRFG*KITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_017029763
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG
ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRF
G*KITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_006724839
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG
DWVHIFPEGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFG*KITVLIGKPFSALPVLERLRAENKSAVEMRKAL
TDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_011531191
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQKGMDFILEKLNHG
DWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFG*KITVLIGKPFSALPVLERL
RAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_001410698
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG
DWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFG*KITVLIGKPFSALPVLERL
RAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG
DWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFG*KITVLIGKPFSALPVLERL
RAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_181313
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG
ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFPEGIGRLIAECH
LNPIILPLWHVGMNDVLPNSPPYFPRFG*KITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQL
HNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_011531189
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWAQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGIGRLIAECHLNPIILPLW
HVGMNDVLPNSPPYFPRFG*KITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_017029764
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQKGMDFILEKLNHGD
WVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFG*KITVLIGKPFSALPVLERLR
AENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_000116
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG
ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQK
GMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFG*KITVLIG
KPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_047442407
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPSKWAGPAPPASAQICPPPALPRRTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGK
RREKGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFP
RFG*KITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_017029761
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWG
ILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFPEGIGRLIAECH
LNPIILPLWHVGEPGDGDREMASGVGGLGLPLVPGCPAPPHVWPSVHCAAGMNDVLPNSPPYFPRFG*KITVLIGKPFSA
LPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

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

Variant Samples
Additional References at PubMed
PMID:9345098   PMID:16427346   PMID:22382802   PMID:23409742   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000819778 CLINVAR
dbSNP (RS) rs1603381860 CLINVAR
MedGen C0574083 CLINVAR
NCBI Gene TAZ CLINVAR
OMIM 300394 CLINVAR
  302060 CLINVAR
SNOMED CT 297231002 CLINVAR