RGD:34896159 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:34896159 -  Homo sapiens

RGD ID: 34896159
RS ID: rs2068606932
ClinVar ID: CV917574
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAFAZZIN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,649,075
GRCh38 X 154,420,736
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009634.2:g.14202G>A
NM_181312.4:c.735+1G>A
NM_000116.5:c.777+1G>A
NM_001303465.2:c.789+1G>A
More... 		02/16/2023 splice donor variant pathogenic|likely pathogenic 3-methylglutaconicaciduria type II; Barth syndrome; Cardiomyopathies; 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
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:TAFAZZIN
Accession:XM_006724839
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029761
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_047442408
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724837
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181313
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724836
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_001303465
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_011531189
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_011531191
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181312
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029763
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_001410698
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_000116
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029764
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_047442407
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:11238270   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001193472 CLINVAR
  RCV003236876 CLINVAR
dbSNP (RS) rs2068606932 CLINVAR
MedGen C0574083 CLINVAR
  C0878544 CLINVAR
NCBI Gene TAZ CLINVAR
OMIM 300394 CLINVAR
  302060 CLINVAR
SNOMED CT 297231002 CLINVAR
  85898001 CLINVAR