RGD:14718151 Rat Genome Database

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Variant: RGD:14718151 -  Homo sapiens

RGD ID: 14718151
RS ID: rs9387059
ClinVar ID: CV661477
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA4  LOC107986633  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 112,450,520
GRCh38 6 112,129,318
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002290.5:c.4113-243A>G
NM_001105206.3:c.4134-243A>G
NM_001105207.3:c.4113-243A>G
NG_008209.1:g.130309A>G
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LAMA4
Accession:NM_001105209
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418770
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418769
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_017010854
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_002290
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105206
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266983
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105207
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418771
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266984
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105208
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000830301 CLINVAR
dbSNP (RS) rs9387059 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LAMA4 CLINVAR
OMIM 600133 CLINVAR