RGD:8569612 Rat Genome Database

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Variant: RGD:8569612 -  Homo sapiens

RGD ID: 8569612
RS ID: rs267607600
ClinVar ID: CV45137
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMNA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 156,106,710
GRCh38 1 156,136,919
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_254t1:c.1381-2A>G
LRG_254:g.59347A>G
NG_008692.2:g.59347A>G
NC_000001.11:g.156136919A>G
More... 		08/18/2011 splice acceptor variant|splice-3 likely pathogenic|not provided neonatal/infancy <1 / 1 000 000 Congenital muscular dystrophy, LMNA-related; Lamin A-related Congenital Muscular Dystrophy; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LMNA
Accession:NM_001406991
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406983
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406988
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001257374
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282626
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406987
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282624
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407002
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407003
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406990
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406989
Location:INTRON

Gene Symbol:LMNA
Accession:NM_005572
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406994
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406985
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406998
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282625
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406992
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406999
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170708
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170707
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406993
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406996
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406986
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406984
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407000
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407001
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406995
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406997
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000030147 CLINVAR
  RCV000057284 CLINVAR
dbSNP (RS) rs267607600 CLINVAR
MedGen C2750785 CLINVAR
  CN517202 CLINVAR
NCBI Gene LMNA CLINVAR
OMIM 150330 CLINVAR
  613205 CLINVAR