RGD:14718139 Rat Genome Database

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Variant: RGD:14718139 -  Homo sapiens

RGD ID: 14718139
RS ID: rs6908219
ClinVar ID: CV661508
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA4  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 112,506,583
GRCh38 6 112,185,381
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.946-34C>A
NM_002290.5:c.946-34C>A
NM_001105206.3:c.967-34C>A
NG_008209.1:g.74246C>A
More... 		08/19/2021 intron variant benign none provided
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_047418770
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105208
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266984
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105209
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_002290
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418769
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105206
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418771
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_017010854
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105207
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000830297 CLINVAR
  RCV001730715 CLINVAR
dbSNP (RS) rs6908219 CLINVAR
MedGen C3808935 CLINVAR
  CN517202 CLINVAR
NCBI Gene LAMA4 CLINVAR
OMIM 600133 CLINVAR
  615235 CLINVAR