RGD:10057546 Rat Genome Database

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Variant: RGD:10057546 -  Homo sapiens

RGD ID: 10057546
RS ID: rs794729167
ClinVar ID: CV198556
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127898531  TAFAZZIN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,648,084
GRCh38 X 154,419,745
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.154419745G>A
NC_000023.10:g.153648084G>A
NP_000107.1:p.Trp194Ter
NM_181312.2:c.541+122G>A
More... 		05/31/2012 intron variant|nonsense pathogenic 3-methylglutaconicaciduria type II; 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_006724836
Location:EXON

Gene Symbol:TAFAZZIN
Accession:NM_001410698
Location:EXON

Gene Symbol:TAFAZZIN
Accession:XM_047442407
Location:EXON

Gene Symbol:TAFAZZIN
Accession:XM_017029764
Location:EXON

Gene Symbol:TAFAZZIN
Accession:XM_047442408
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:TAFAZZIN
Accession:NM_181311
Location:EXON

Gene Symbol:TAFAZZIN
Accession:XM_011531191
Location:EXON

Gene Symbol:TAFAZZIN
Accession:NM_000116
Location:EXON

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

Gene Symbol:TAFAZZIN
Accession:NM_001303465
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724837
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181312
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_011531189
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181313
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029761
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724839
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029763
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16427346   PMID:22382802   PMID:23409742   PMID:26845103   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000183908 CLINVAR
  RCV003512022 CLINVAR
dbSNP (RS) rs794729167 CLINVAR
MedGen C0574083 CLINVAR
  C3661900 CLINVAR
NCBI Gene TAZ CLINVAR
OMIM 300394 CLINVAR
  302060 CLINVAR
SNOMED CT 297231002 CLINVAR