RGD:13623755 Rat Genome Database

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Variant: RGD:13623755 -  Homo sapiens

RGD ID: 13623755
RS ID: rs782806847
ClinVar ID: CV521609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA4  LOC107986633  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 112,476,148
GRCh38 6 112,154,946
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_433:g.104681C>T
NG_008209.1:g.104681C>T
NC_000006.12:g.112154946G>A
NC_000006.11:g.112476148G>A
More... 		10/24/2017 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LAMA4
Accession:XM_005266983
Location:EXON

Gene Symbol:LAMA4
Accession:XM_047418771
Location:EXON

Gene Symbol:LAMA4
Accession:XM_005266984
Location:EXON

Gene Symbol:LAMA4
Accession:NM_001105207
Location:EXON

Gene Symbol:LAMA4
Accession:XM_047418770
Location:EXON

Gene Symbol:LAMA4
Accession:NM_002290
Location:EXON

Gene Symbol:LAMA4
Accession:XM_047418769
Location:EXON

Gene Symbol:LAMA4
Accession:NM_001105206
Location:EXON

Gene Symbol:LAMA4
Accession:XM_017010854
Location:EXON

Gene Symbol:LAMA4
Accession:NM_001105209
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105208
Location:INTRON

Gene Symbol:LOC107986633
Accession:XR_001744299
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000651430 CLINVAR
  RCV000786336 CLINVAR
  RCV002406460 CLINVAR
dbSNP (RS) rs782806847 CLINVAR
MedGen C3661900 CLINVAR
  C3808935 CLINVAR
  CN230736 CLINVAR
NCBI Gene LAMA4 CLINVAR
OMIM 600133 CLINVAR
  615235 CLINVAR