RGD:13509591 Rat Genome Database

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Variant: RGD:13509591 -  Homo sapiens

RGD ID: 13509591
RS ID: rs781795144
ClinVar ID: CV481484
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127898531  TAFAZZIN  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,648,041
GRCh38 X 154,419,702
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.154419702C>G
NC_000023.10:g.153648041C>G
NG_009634.1:g.13165C>G
NM_181313.4:c.451+79C>G
More... 		11/08/2017 intron variant likely 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:XM_017029763
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181313
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181312
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724836
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029761
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_047442407
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724837
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_011531189
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_047442408
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_001410698
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029764
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_000116
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_001303465
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724839
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_011531191
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181311
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000578250 CLINVAR
dbSNP (RS) rs781795144 CLINVAR
MedGen C0574083 CLINVAR
NCBI Gene TAZ CLINVAR
OMIM 300394 CLINVAR
  302060 CLINVAR
SNOMED CT 297231002 CLINVAR