RGD:13535300 Rat Genome Database

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Variant: RGD:13535300 -  Homo sapiens

RGD ID: 13535300
RS ID: rs770303209
ClinVar ID: CV502652
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,623,334
GRCh38 9 134,731,488
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t2:c.1165-8C>T
NM_001278074.1:c.1165-8C>T
NG_008030.1:g.94683C>T
NC_000009.12:g.134731488C>T
More... 		02/11/2019 intron variant likely benign 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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001697868 CLINVAR
  RCV002232595 CLINVAR
dbSNP (RS) rs770303209 CLINVAR
MedGen C0268335 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR