RGD:156034506 Rat Genome Database

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Variant: RGD:156034506 -  Homo sapiens

RGD ID: 156034506
ClinVar ID: CV1890056
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 112,508,636
GRCh38 6 112,187,434
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001105207.3:c.945+16C>T
NM_002290.5:c.945+16C>T
NM_001105206.3:c.966+16C>T
LRG_433:g.72193C>T
More... 		03/12/2022 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:LAMA4
Accession:XM_005266984
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105207
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_002290
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418769
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105209
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418771
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105208
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418770
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105206
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_017010854
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003078257 CLINVAR
MedGen C3808935 CLINVAR
NCBI Gene LAMA4 CLINVAR
OMIM 600133 CLINVAR
  615235 CLINVAR