RGD:13605906 Rat Genome Database

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Variant: RGD:13605906 -  Homo sapiens

RGD ID: 13605906
RS ID: rs1557191170
ClinVar ID: CV534659
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAFAZZIN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,640,551
GRCh38 X 154,412,214
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.238G>A
NM_181312.4:c.238G>A
NM_001303465.2:c.292G>A
NP_851829.1:p.Gly80Arg
More... 		05/08/2023 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|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
Barth syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:TAFAZZIN
Accession:XM_011531189
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_047442408
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_001303465
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_000116
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029764
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181312
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_011531191
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724839
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181313
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_047442407
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724836
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029761
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029763
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_001410698
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724837
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181311
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:21300850   PMID:24342716   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000637296 CLINVAR
dbSNP (RS) rs1557191170 CLINVAR
MedGen C0574083 CLINVAR
NCBI Gene TAZ CLINVAR
OMIM 300394 CLINVAR
  302060 CLINVAR
SNOMED CT 297231002 CLINVAR