RGD:11543153 Rat Genome Database

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Variant: RGD:11543153 -  Homo sapiens

RGD ID: 11543153
RS ID: rs7868111
ClinVar ID: CV253454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,717,610
GRCh38 9 134,825,764
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000093.3:c.4955-28T>C
NM_000093.5:c.4955-28T>C
NC_000009.11:g.137717610T>C
NM_001278074.1:c.4955-28T>C
More... 		07/30/2021 intron variant benign AllHighlyPenetrant; EDS I; Ehlers-Danlos syndrome, classic type I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:LOC101448202
Accession:NR_103451
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000242081 CLINVAR
  RCV000830157 CLINVAR
  RCV001658148 CLINVAR
  RCV001658149 CLINVAR
dbSNP (RS) rs7868111 CLINVAR
MedGen C0268335 CLINVAR
  C3661900 CLINVAR
  C5543412 CLINVAR
  CN169374 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  619329 CLINVAR
SNOMED CT 83470009 CLINVAR