rs2068315794 Rat Genome Database

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Variant: rs2068315794 -  Homo sapiens

RGD ID: 127263456
RS ID: rs2068315794
ClinVar ID: CV1108192
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNASE1L1  LOC130068869  TAFAZZIN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,640,297
GRCh38 X 154,411,960
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_131t1:c.109+8G>A
NM_001009934.3:c.-157C>T
NM_001009933.3:c.-242C>T
NM_001009932.3:c.-500C>T
More... 		04/17/2023 5 prime utr 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:XM_005277829
Location:5UTRS;EXON

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

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

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

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

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

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

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

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

Gene Symbol:TAFAZZIN
Accession:XM_006724839
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSE*AQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG
DWVHIFPEGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKAL
TDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSE*AQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG
DWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERL
RAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_001410698
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSE*AQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG
DWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERL
RAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_006724837
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSE*AQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHG
DWVHIFPEGIGRLIAECHLNPIILPLWHVGEPGDGDREMASGVGGLGLPLVPGCPAPPHVWPSVHCAAGMNDVLPNSPPY
FPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_006724836
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSE*AQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGR
HMPGAGKRREKGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLP
NSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:XM_011531189
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSE*AQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGIGRLIAECHLNPIILPLW
HVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

Gene Symbol:TAFAZZIN
Accession:NM_001303465
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSE*AQAEAGPPGYPCPAGEYMNHLTVHNREVLYELIEKRGPATP
LITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGR
HMPGAGKRREKGDGVYQKGMDFILEKLNHGDWVHIFPEGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKIT
VLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR*

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

Gene Symbol:TAFAZZIN
Accession:XM_011531191
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181311
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029763
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_047442407
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_000116
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029764
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181313
Location:INTRON

Gene Symbol:DNASE1L1
Accession:NM_001303620
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029761
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_047442408
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181312
Location:INTRON

Gene Symbol:DNASE1L1
Accession:NM_006730
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001439292 CLINVAR
dbSNP (RS) rs2068315794 CLINVAR
MedGen C0574083 CLINVAR
NCBI Gene DNASE1L1 CLINVAR
  LOC130068869 CLINVAR
  TAFAZZIN CLINVAR
OMIM 300081 CLINVAR
  300394 CLINVAR
  302060 CLINVAR
SNOMED CT 297231002 CLINVAR