RGD:10411148 Rat Genome Database

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Variant: RGD:10411148 -  Homo sapiens

RGD ID: 10411148
RS ID: rs764644830
ClinVar ID: CV210144
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,727,061
GRCh38 9 134,835,215
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278074.1:c.5370+11C>T
NG_008030.1:g.198410C>T
NC_000009.12:g.134835215C>T
NC_000009.11:g.137727061C>T
More... 		01/13/2018 intron variant benign|likely benign|uncertain significance 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000199658 CLINVAR
  RCV000351620 CLINVAR
  RCV001168154 CLINVAR
  RCV001815247 CLINVAR
  RCV002057025 CLINVAR
dbSNP (RS) rs764644830 CLINVAR
MedGen C0268335 CLINVAR
  C3508773 CLINVAR
  C3661900 CLINVAR
  C4225429 CLINVAR
  CN169374 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR