RGD:11551935 Rat Genome Database

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Variant: RGD:11551935 -  Homo sapiens

RGD ID: 11551935
RS ID: rs200931039
ClinVar ID: CV251194
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL7A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 48,616,610
GRCh38 3 48,579,177
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000094.3:c.5388+20C>T
LRG_286t1:c.5388+20C>T
LRG_286:g.21076C>T
NG_007065.1:g.21076C>T
More... 		12/03/2021 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:COL7A1
Accession:XM_017005689
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005692
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005688
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005690
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005691
Location:INTRON

Gene Symbol:COL7A1
Accession:NM_000094
Location:INTRON

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

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

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

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

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

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

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000253701 CLINVAR
  RCV002057309 CLINVAR
dbSNP (RS) rs200931039 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL7A1 CLINVAR
OMIM 120120 CLINVAR