RGD:28877914 Rat Genome Database

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Variant: RGD:28877914 -  Homo sapiens

RGD ID: 28877914
RS ID: rs1413243483
ClinVar ID: CV902891
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAFAZZIN  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,649,991
GRCh38 X 154,421,652
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000116.5:c.*648A>C
NM_001303465.2:c.*648A>C
NM_181311.4:c.*648A>C
NM_181312.4:c.*648A>C
More... 		04/20/2018 3 prime utr variant uncertain significance 3-methylglutaconicaciduria type II; Barth syndrome; Cardioskeletal myopathy with neutropenia and abnormal mitochondria; MGA type II
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TAFAZZIN
Accession:NM_181312
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:XM_047442408
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:NM_181311
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:XM_006724836
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:XM_006724839
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:XM_047442407
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:XM_017029761
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:XM_017029763
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:NM_181313
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:NM_001303465
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:XM_006724837
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:XM_011531191
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:NM_001410698
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:NM_000116
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:XM_017029764
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TAFAZZIN
Accession:XM_011531189
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001166588 CLINVAR
  RCV001166589 CLINVAR
  RCV001168330 CLINVAR
dbSNP (RS) rs1413243483 CLINVAR
MedGen C0007193 CLINVAR
  C0014117 CLINVAR
  C0574083 CLINVAR
NCBI Gene TAZ CLINVAR
OMIM 226000 CLINVAR
  300394 CLINVAR
  302060 CLINVAR
SNOMED CT 195021004 CLINVAR
  297231002 CLINVAR
  65457005 CLINVAR