RGD:153349281 Rat Genome Database

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Variant: RGD:153349281 -  Homo sapiens

RGD ID: 153349281
RS ID: rs2133322852
ClinVar ID: CV1694156
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMC3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 133,947,014
GRCh38 9 131,071,627
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006059.4:c.3211+2T>C
NG_029800.1:g.67511T>C
NC_000009.12:g.131071627T>C
NC_000009.11:g.133947014T>C
 09/14/2021 splice donor variant likely pathogenic Cortical malformations, occipital; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LAMC3
Accession:NM_006059
Location:INTRON

Gene Symbol:LAMC3
Accession:XM_006716921
Location:INTRON

Gene Symbol:LAMC3
Accession:XM_011518121
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:21572413   PMID:26802095   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002275673 CLINVAR
  RCV003774886 CLINVAR
dbSNP (RS) rs2133322852 CLINVAR
MedGen C3279875 CLINVAR
  C3661900 CLINVAR
NCBI Gene LAMC3 CLINVAR
OMIM 604349 CLINVAR
  614115 CLINVAR