RGD:126773688 Rat Genome Database

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Variant: RGD:126773688 -  Homo sapiens

RGD ID: 126773688
RS ID: rs749838365
ClinVar ID: CV1027038
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ESR1  SYNE1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 152,443,821
GRCh38 6 152,122,686
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_427t1:c.26154-10C>A
NM_182961.4:c.26154-10C>A
NM_001347702.2:c.2688-10C>A
NM_001347701.2:c.2701-10C>A
More... 		10/05/2022 intron variant likely benign|uncertain significance 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_011535644
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418297
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715417
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_011535642
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010610
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418299
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418505
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010378
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385568
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715420
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010609
Location:INTRON

Gene Symbol:SYNE1
Accession:NM_001347702
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715423
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385570
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715411
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715416
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010381
Location:INTRON

Gene Symbol:SYNE1
Accession:NM_001347701
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418503
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010379
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418511
Location:INTRON

Gene Symbol:ESR1
Accession:XM_011535545
Location:INTRON

Gene Symbol:ESR1
Accession:XM_011535549
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010618
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715412
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715410
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_011535645
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418512
Location:INTRON

Gene Symbol:SYNE1
Accession:NM_182961
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715421
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418298
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001122742
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_011535643
Location:INTRON

Gene Symbol:SYNE1
Accession:NM_033071
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_011535641
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010613
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010611
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001122740
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010617
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385571
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418295
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418509
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418294
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418508
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010380
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010608
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418292
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715409
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715408
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715425
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715413
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001291241
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010377
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418293
Location:INTRON

Gene Symbol:ESR1
Accession:XM_011535547
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418289
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010383
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010614
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010612
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418290
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418501
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001291230
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001122741
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010615
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010616
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418291
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385569
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418513
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_017010619
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418296
Location:INTRON

Gene Symbol:ESR1
Accession:NM_000125
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418504
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418510
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715415
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715424
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715407
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001328100
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418502
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715422
Location:INTRON

Gene Symbol:ESR1
Accession:XM_011535543
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418506
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_006715414
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385572
Location:INTRON

Gene Symbol:SYNE1
Accession:XM_047418507
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001346360 CLINVAR
dbSNP (RS) rs749838365 CLINVAR
MedGen C1853116 CLINVAR
NCBI Gene ESR1 CLINVAR
  SYNE1 CLINVAR
OMIM 133430 CLINVAR
  608441 CLINVAR
  610743 CLINVAR
  612998 CLINVAR