RGD:156196838 Rat Genome Database

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Variant: RGD:156196838 -  Homo sapiens

RGD ID: 156196838
ClinVar ID: CV1912362
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ESR1  SYNE1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 152,443,820
GRCh38 6 152,122,685
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_427t1:c.26154-9T>C
NM_033071.5:c.26010-9T>C
NM_182961.4:c.26154-9T>C
NM_001347702.2:c.2688-9T>C
More... 		03/15/2022 intron variant likely benign ATAXIA, RECESSIVE, OF BEAUCE; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Spinocerebellar ataxia, autosomal recessive 8; SYNE1-Related Autosomal Recessive Cerebellar Ataxia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SYNE1
Accession:XM_017010612
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715421
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010609
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001122742
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715409
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715411
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715412
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715425
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010383
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001291241
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_011535644
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_011535645
Location:INTRON

Gene Symbol:ESR1
Accession:XM_011535545
Location:INTRON

Gene Symbol:ESR1
Accession:XM_011535549
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010378
Location:INTRON

Gene Symbol:ESR1
Accession:NM_000125
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385571
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001328100
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715416
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715408
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385568
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385572
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_011535642
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010615
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418297
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418296
Location:INTRON

Gene Symbol:ESR1
Accession:XM_011535547
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418295
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010380
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418293
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418299
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418294
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715415
Location:INTRON

Gene Symbol:SYNE1
Accession:NM_001347701
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418291
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715414
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418290
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418504
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418503
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418507
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418511
Location:INTRON

Gene Symbol:SYNE1
Accession:NM_033071
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010613
Location:INTRON

Gene Symbol:SYNE1
Accession:NM_001347702
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418513
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715413
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418298
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418506
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715422
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715407
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_011535641
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010610
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418510
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010379
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010619
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418505
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001291230
Location:INTRON

Gene Symbol:ESR1
Accession:XM_011535543
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010381
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418292
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715417
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715423
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418509
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001122741
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715424
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010616
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715410
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010377
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010611
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715420
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385570
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385569
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418502
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010614
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010617
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010608
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418512
Location:INTRON

Gene Symbol:SYNE1
Accession:NM_182961
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010618
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418289
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_011535643
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418508
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418501
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001122740
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002595562 CLINVAR
MedGen C1853116 CLINVAR
NCBI Gene ESR1 CLINVAR
  SYNE1 CLINVAR
OMIM 133430 CLINVAR
  608441 CLINVAR
  610743 CLINVAR
  612998 CLINVAR