RGD:15151328 Rat Genome Database

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Variant: RGD:15151328 -  Homo sapiens

RGD ID: 15151328
RS ID: rs374882140
ClinVar ID: CV759322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL7A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 48,609,928
GRCh38 3 48,572,495
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007065.1:g.27758T>C
NC_000003.12:g.48572495A>G
NC_000003.11:g.48609928A>G
LRG_286t1:c.6936+8T>C
More... 		09/16/2020 intron variant likely benign none provided
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_017005688
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005690
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005689
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005692
Location:INTRON

Gene Symbol:COL7A1
Accession:NM_000094
Location:INTRON

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_001740004
Location:INTRON;NON-CODING

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000923652 CLINVAR
  RCV001272345 CLINVAR
dbSNP (RS) rs374882140 CLINVAR
MedGen C2673612 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL7A1 CLINVAR
OMIM 120120 CLINVAR