RGD:11588643 Rat Genome Database

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Variant: RGD:11588643 -  Homo sapiens

RGD ID: 11588643
RS ID: rs6672584
ClinVar ID: CV277334
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPM3  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 154,138,202
GRCh38 1 154,165,726
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008621.1:g.31408A>C
NC_000001.11:g.154165726T>G
NC_000001.10:g.154138202T>G
NM_001364682.1:c.*2211A>C
More... 		06/14/2016 3 prime utr variant benign Congenital Fiber-Type Disproportion; Congenital fiber-type disproportion myopathy; Myopathies, Nemaline; Rod myopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPM3
Accession:NM_152263
Location:3UTRS;EXON

Gene Symbol:TPM3
Accession:NM_001364682
Location:3UTRS;EXON

Gene Symbol:TPM3
Accession:NM_001364683
Location:3UTRS;EXON

Gene Symbol:TPM3
Accession:NM_153649
Location:INTRON

Gene Symbol:TPM3
Accession:NM_001043353
Location:INTRON

Gene Symbol:TPM3
Accession:NM_001278188
Location:INTRON

Gene Symbol:TPM3
Accession:NM_001278190
Location:INTRON

Gene Symbol:TPM3
Accession:NM_001043352
Location:INTRON

Gene Symbol:TPM3
Accession:NM_001364681
Location:INTRON

Gene Symbol:TPM3
Accession:NM_001364679
Location:INTRON

Gene Symbol:TPM3
Accession:NM_001278189
Location:INTRON

Gene Symbol:TPM3
Accession:NM_001364680
Location:INTRON

Gene Symbol:TPM3
Accession:NM_001349679
Location:INTRON

Gene Symbol:TPM3
Accession:NM_001278191
Location:INTRON

Gene Symbol:TPM3
Accession:NM_001043351
Location:INTRON

Gene Symbol:TPM3
Accession:NR_103461
Location:INTRON;NON-CODING

Gene Symbol:TPM3
Accession:NR_103460
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000405968 CLINVAR
  RCV001795902 CLINVAR
dbSNP (RS) rs6672584 CLINVAR
MedGen C0206157 CLINVAR
  C0546264 CLINVAR
NCBI Gene TPM3 CLINVAR
OMIM 191030 CLINVAR
  255310 CLINVAR
SNOMED CT 240084007 CLINVAR
  75072002 CLINVAR