RGD:40904584 Rat Genome Database

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Variant: RGD:40904584 -  Homo sapiens

RGD ID: 40904584
RS ID: rs767241808
ClinVar ID: CV977915
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL7A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 48,623,120
GRCh38 3 48,585,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000094.4:c.3831+3G>A
LRG_286:g.14566G>A
NG_007065.1:g.14566G>A
NC_000003.12:g.48585687C>T
More... 		05/03/2021 intron variant likely benign|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL7A1
Accession:XM_017005691
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005692
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005689
Location:INTRON

Gene Symbol:COL7A1
Accession:NM_000094
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005690
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005688
Location:INTRON

Gene Symbol:COL7A1
Accession:XR_001740006
Location:INTRON;NON-CODING

Gene Symbol:COL7A1
Accession:XR_001740008
Location:INTRON;NON-CODING

Gene Symbol:COL7A1
Accession:XR_001740007
Location:INTRON;NON-CODING

Gene Symbol:COL7A1
Accession:XR_001740004
Location:INTRON;NON-CODING

Gene Symbol:COL7A1
Accession:XR_001740003
Location:INTRON;NON-CODING

Gene Symbol:COL7A1
Accession:XR_001740005
Location:INTRON;NON-CODING

Gene Symbol:COL7A1
Accession:XR_001740009
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001277637 CLINVAR
  RCV003898255 CLINVAR
dbSNP (RS) rs767241808 CLINVAR
MedGen C2673612 CLINVAR
NCBI Gene COL7A1 CLINVAR
OMIM 120120 CLINVAR