rs1449516565 Rat Genome Database

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Variant: rs1449516565 -  Homo sapiens

RGD ID: 28911618
RS ID: rs1449516565
ClinVar ID: CV872247
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL2A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 48,377,461
GRCh38 12 47,983,678
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033150.3:c.1788+5G>A
NM_001844.5:c.1995+5G>A
NG_008072.1:g.25825G>A
NC_000012.12:g.47983678C>T
More... 		12/30/2023 intron variant uncertain significance Arthroophthalmopathy, hereditary progressive; none provided; Stickler syndrome, membranous vitreous type; Stickler syndrome, vitreous type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL2A1
Accession:XM_017018829
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_047428315
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_001844
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018831
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_033150
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018830
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018828
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001110873 CLINVAR
  RCV001110874 CLINVAR
  RCV003769124 CLINVAR
dbSNP (RS) rs1449516565 CLINVAR
MedGen C2020284 CLINVAR
  C3661900 CLINVAR
  CN043672 CLINVAR
NCBI Gene COL2A1 CLINVAR
OMIM 108300 CLINVAR
  120140 CLINVAR