RGD:40906357 Rat Genome Database

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Variant: RGD:40906357 -  Homo sapiens

RGD ID: 40906357
RS ID: rs1321882939
ClinVar ID: CV977884
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL7A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 48,615,746
GRCh38 3 48,578,313
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.12:g.48578313A>G
NG_007065.1:g.21940T>C
NC_000003.11:g.48615746A>G
LRG_286:g.21940T>C
More... 		11/05/2020 intron variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL7A1
Accession:XM_017005690
Location:INTRON

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:XM_017005688
Location:INTRON

Gene Symbol:COL7A1
Accession:NM_000094
Location:INTRON

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

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001279723 CLINVAR
  RCV002069469 CLINVAR
  RCV003898264 CLINVAR
dbSNP (RS) rs1321882939 CLINVAR
MedGen C2673612 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL7A1 CLINVAR
OMIM 120120 CLINVAR