RGD:10050369 Rat Genome Database

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Variant: RGD:10050369 -  Homo sapiens

RGD ID: 10050369
RS ID: rs149883454
ClinVar ID: CV191821
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RIMS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 72,962,456
GRCh38 6 72,252,753
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001350428.2:c.1052-8T>C
NM_001350430.2:c.1052-8T>C
NM_001350437.2:c.1052-8T>C
NM_001350450.2:c.1052-8T>C
More... 		11/06/2020 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RIMS1
Accession:XM_017010517
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_017010544
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350442
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350470
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_017010546
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350447
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350471
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350473
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_047418416
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_047418426
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_047418425
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_017010518
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350414
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350426
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350434
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350472
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_047418424
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350419
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350450
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350436
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350443
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_017010520
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350417
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350440
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350463
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350421
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_047418418
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350430
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350439
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350435
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350416
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350455
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350418
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350469
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350461
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_011535604
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350413
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_024446372
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350459
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350420
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350474
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350427
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350465
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_047418419
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_017010525
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_017010537
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350437
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350458
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350415
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_014989
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350464
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001168410
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_017010521
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350428
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_017010516
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350457
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_047418421
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001168407
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350411
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350448
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350432
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350460
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350422
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350446
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350425
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_024446369
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350441
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001168408
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350454
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_047418423
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350429
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350467
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001168409
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350456
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350444
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350462
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350433
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_047418420
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_017010519
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350412
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350468
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_047418422
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001168411
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350438
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350449
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350452
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350431
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_017010522
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350423
Location:INTRON

Gene Symbol:RIMS1
Accession:XM_047418417
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350424
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350445
Location:INTRON

Gene Symbol:RIMS1
Accession:NM_001350466
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000175081 CLINVAR
  RCV000327241 CLINVAR
  RCV001699142 CLINVAR
dbSNP (RS) rs149883454 CLINVAR
MedGen C1863634 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene RIMS1 CLINVAR
OMIM 603649 CLINVAR
  606629 CLINVAR