RGD:11542249 Rat Genome Database

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Variant: RGD:11542249 -  Homo sapiens

RGD ID: 11542249
RS ID: rs2622875
ClinVar ID: CV249295
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL11A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 103,468,295
GRCh38 1 103,002,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_080629.3:c.2079+8G>A
NC_000001.11:g.103002739C>T
NC_000001.10:g.103468295C>T
NM_001854.3:c.2043+8G>A
More... 		05/24/2018 intron variant benign neonatal <1 / 1 000 000 AllHighlyPenetrant; Connective tissue disease; none provided; Stickler syndrome, beaded vitreous type; STICKLER SYNDROME, TYPE II; Stickler syndrome, vitreous type 2; STL 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL11A1
Accession:NM_080629
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_001854
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000335
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000334
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_080630
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_001190709
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000337
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000336
Location:INTRON

Gene Symbol:COL11A1
Accession:NR_134980
Location:INTRON;NON-CODING

Gene Symbol:COL11A1
Accession:XR_007085257
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000242455 CLINVAR
  RCV000275444 CLINVAR
  RCV000318868 CLINVAR
  RCV000711211 CLINVAR
  RCV002278170 CLINVAR
dbSNP (RS) rs2622875 CLINVAR
MedGen C0009782 CLINVAR
  C1858084 CLINVAR
  C3278138 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL11A1 CLINVAR
OMIM 120280 CLINVAR
  228520 CLINVAR
  604841 CLINVAR