RGD:11608134 Rat Genome Database

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Variant: RGD:11608134 -  Homo sapiens

RGD ID: 11608134
RS ID: rs4448745
ClinVar ID: CV315702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYBPC1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 102,028,397
GRCh38 12 101,634,619
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002465.4:c.608+14A>G
NC_000012.12:g.101634619A>G
NC_000012.11:g.102028397A>G
NM_001254718.3:c.533+14A>G
More... 		04/28/2020 intron variant benign|likely benign CONGENITAL MYOPATHY 16; Lethal congenital contracture syndrome 4; MYOGENIC TREMOR; Myopathy, congenital, with tremor; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYBPC1
Accession:NM_001254721
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_006719407
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_006719410
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_001404680
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_017019316
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_017019320
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_047428875
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_001254722
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_006719411
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_006719405
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_017019315
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_001404675
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_206819
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_206820
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_206821
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_005268876
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_001404677
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_001254720
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_002465
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_001254719
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_006719409
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_017019317
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_017019318
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_001404676
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_001254723
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_006719406
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_001404678
Location:INTRON

Gene Symbol:MYBPC1
Accession:XM_017019319
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_001404679
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_001404681
Location:INTRON

Gene Symbol:MYBPC1
Accession:NM_001254718
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000351138 CLINVAR
  RCV001566226 CLINVAR
  RCV002504066 CLINVAR
dbSNP (RS) rs4448745 CLINVAR
MedGen C3280526 CLINVAR
  C3661900 CLINVAR
NCBI Gene MYBPC1 CLINVAR
OMIM 160794 CLINVAR
  614335 CLINVAR
  614915 CLINVAR
  618524 CLINVAR