RGD:28887444 Rat Genome Database

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Variant: RGD:28887444 -  Homo sapiens

RGD ID: 28887444
RS ID: rs372760316
ClinVar ID: CV873934
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPM1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 63,334,982
GRCh38 15 63,042,783
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001018020.2:c.-47G>T
NM_001301244.2:c.-47G>T
NM_001365776.1:c.-47G>T
NM_001365777.1:c.-47G>T
More... 		01/12/2018 5 prime utr variant uncertain significance Familial hypertrophic cardiomyopathy 3; TPM1-Related Familial Hypertrophic Cardiomyopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407331
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407326
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407327
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407324
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407334
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001365777
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407329
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001018004
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001018005
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407338
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407335
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001018020
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001018006
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407332
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407337
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407323
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001301244
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:XM_047433001
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407322
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_000366
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407336
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407325
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001018007
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001365776
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001365779
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407328
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407333
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001365778
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407330
Location:5UTRS;EXON

Gene Symbol:TPM1
Accession:NR_176342
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176344
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176338
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176346
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176337
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176341
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176345
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176339
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176340
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176343
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176347
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NM_001301289
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001018008
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365782
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407342
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407340
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001330351
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365780
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407344
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001330344
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001330346
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365781
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407341
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NR_176348
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176349
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176353
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176352
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176350
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176351
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001119606 CLINVAR
  RCV001119607 CLINVAR
dbSNP (RS) rs372760316 CLINVAR
MedGen C1861863 CLINVAR
  C2678476 CLINVAR
NCBI Gene TPM1 CLINVAR
OMIM 115196 CLINVAR
  191010 CLINVAR
  611878 CLINVAR