RGD:10408193 Rat Genome Database

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Variant: RGD:10408193 -  Homo sapiens

RGD ID: 10408193
RS ID: rs113860699
ClinVar ID: CV172115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMNA  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 156,108,550
GRCh38 1 156,138,759
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_254:g.61187T>A
NG_008692.2:g.61187T>A
NC_000001.11:g.156138759T>A
NC_000001.10:g.156108550T>A
More... 		01/08/2015 intron variant pathogenic|not provided infancy|neonatal <1 / 1 000 000 Progerin-producing progeroid laminopathy
Disease Annotations     Click to see Annotation Detail View
progeria  (IAGP)


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

Gene Symbol:LMNA
Accession:NM_001406991
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406986
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406985
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406999
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407000
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406988
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170708
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407002
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406993
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406995
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282624
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406989
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406983
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406996
Location:INTRON

Gene Symbol:LMNA
Accession:NM_005572
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001257374
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406992
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407001
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407003
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406994
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406998
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282625
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406990
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406997
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170707
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406984
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282626
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406987
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:27920058  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000192017 CLINVAR
dbSNP (RS) rs113860699 CLINVAR
MedGen C0033300 CLINVAR
NCBI Gene LMNA CLINVAR
OMIM 150330 CLINVAR
  176670 CLINVAR
SNOMED CT 238870004 CLINVAR