RGD:8622812 Rat Genome Database

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Variant: RGD:8622812 -  Homo sapiens

RGD ID: 8622812
RS ID: rs267607632
ClinVar ID: CV77836
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMNA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 156,104,767
GRCh38 1 156,134,976
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_254:g.57404G>A
NG_008692.2:g.57404G>A
NC_000001.11:g.156134976G>A
NC_000001.10:g.156104767G>A
More... 		10/28/2022 splice donor variant|splice-5 pathogenic|likely pathogenic|not provided Charcot-Marie-Tooth, Type 2; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LMNA
Accession:NM_001406996
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406986
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406995
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406988
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406999
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406994
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282626
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406992
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406987
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406997
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170707
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001257374
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282624
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406985
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407002
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407003
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406983
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406993
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406984
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407000
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406990
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406989
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406998
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170708
Location:INTRON

Gene Symbol:LMNA
Accession:NM_005572
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282625
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406991
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407001
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:18585512   PMID:18926329   PMID:20848652   PMID:28492532   PMID:30572990  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000057465 CLINVAR
  RCV000477527 CLINVAR
dbSNP (RS) rs267607632 CLINVAR
MedGen C0270914 CLINVAR
  C3661900 CLINVAR
NCBI Gene LMNA CLINVAR
OMIM 150330 CLINVAR