RGD:11577783 Rat Genome Database

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Variant: RGD:11577783 -  Homo sapiens

RGD ID: 11577783
RS ID: rs762551492
ClinVar ID: CV282768
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEB  RIF1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 152,381,670
GRCh38 2 151,525,156
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004543.5:c.17169+7T>C
NM_001164507.2:c.22272+7T>C
NM_001164508.2:c.22272+7T>C
NC_000002.12:g.151525156A>G
More...
01/12/2018 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Nemaline myopathy 2, autosomal recessive; Nemaline myopathy caused by mutation in the nebulin gene
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RIF1
Accession:NM_018151
Location:INTRON

Gene Symbol:RIF1
Accession:NM_001177663
Location:INTRON

Gene Symbol:RIF1
Accession:NM_001177664
Location:INTRON

Gene Symbol:RIF1
Accession:NM_001177665
Location:INTRON

Gene Symbol:NEB
Accession:NM_004543
Location:INTRON

Gene Symbol:NEB
Accession:NM_001164508
Location:INTRON

Gene Symbol:NEB
Accession:NM_001164507
Location:INTRON

Gene Symbol:NEB
Accession:NM_001271208
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246613
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246612
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246617
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246610
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246606
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246602
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246594
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246608
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246604
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246601
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246599
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246596
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246590
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246611
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246591
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246597
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246592
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246598
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246593
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246615
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246616
Location:INTRON

Gene Symbol:RIF1
Accession:XM_005246665
Location:INTRON

Gene Symbol:NEB
Accession:XM_006712541
Location:INTRON

Gene Symbol:NEB
Accession:XM_006712542
Location:INTRON

Gene Symbol:NEB
Accession:XM_011511227
Location:INTRON

Gene Symbol:NEB
Accession:XM_011511226
Location:INTRON

Gene Symbol:NEB
Accession:XM_011511225
Location:INTRON

Gene Symbol:RIF1
Accession:XM_017004423
Location:INTRON

Gene Symbol:RIF1
Accession:XM_017004422
Location:INTRON

Gene Symbol:RIF1
Accession:XM_017004424
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004177
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004185
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004180
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004183
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004182
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004181
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004179
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004178
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004184
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444875
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444884
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444879
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444882
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444870
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444885
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444868
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444872
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444880
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444883
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444867
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444869
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444881
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444887
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444873
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444871
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444876
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444886
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444874
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444877
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444878
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444485
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444484
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444477
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444483
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444482
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444479
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444481
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444478
Location:INTRON

Gene Symbol:RIF1
Accession:XR_007077544
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077534
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077537
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077543
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077535
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077532
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077533
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077536
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077530
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077529
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077531
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077541
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077539
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077542
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077540
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077538
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077545
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077546
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077547
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000641395 CLINVAR
dbSNP (RS) rs762551492 CLINVAR
MedGen C1850569 CLINVAR
NCBI Gene NEB CLINVAR
  RIF1 CLINVAR
OMIM 161650 CLINVAR
  256030 CLINVAR
  608952 CLINVAR