RGD:151864863 Rat Genome Database

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Variant: RGD:151864863 -  Homo sapiens

RGD ID: 151864863
RS ID: rs2102883099
ClinVar ID: CV1356722
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMNA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 156,104,976
GRCh38 1 156,135,185
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001257374.3:c.475-2A>G
NM_001282624.2:c.568-2A>G
NM_001282625.2:c.811-2A>G
NM_001282626.2:c.811-2A>G
More... 		08/27/2021 splice acceptor variant likely pathogenic Charcot-Marie-Tooth, Type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LMNA
Accession:NM_170707
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406984
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407002
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406991
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407000
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406985
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406995
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282625
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406993
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282624
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406990
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406986
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406989
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282626
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406997
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170708
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407003
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406992
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406999
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406994
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406987
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001257374
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406998
Location:INTRON

Gene Symbol:LMNA
Accession:NM_005572
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407001
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406988
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406996
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406983
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:18585512   PMID:18926329   PMID:27532257   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001959700 CLINVAR
dbSNP (RS) rs2102883099 CLINVAR
MedGen C0270914 CLINVAR
NCBI Gene LMNA CLINVAR
OMIM 150330 CLINVAR