RGD:13538790 Rat Genome Database

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Variant: RGD:13538790 -  Homo sapiens

RGD ID: 13538790
RS ID: rs187178059
ClinVar ID: CV501489
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA4  LOC107986633  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 112,453,936
GRCh38 6 112,132,734
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_433:g.126893C>G
NG_008209.1:g.126893C>G
NC_000006.12:g.112132734G>C
NC_000006.11:g.112453936G>C
More... 		03/07/2017 intron variant benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LAMA4
Accession:NM_001105206
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418770
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418771
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105208
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105209
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266983
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418769
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_002290
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_017010854
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105207
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266984
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 RCV000612350 CLINVAR
  RCV002066697 CLINVAR
dbSNP (RS) rs187178059 CLINVAR
MedGen C3808935 CLINVAR
  CN169374 CLINVAR
NCBI Gene LAMA4 CLINVAR
OMIM 600133 CLINVAR
  615235 CLINVAR