RGD:11586023 Rat Genome Database

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Variant: RGD:11586023 -  Homo sapiens

RGD ID: 11586023
RS ID: rs186072680
ClinVar ID: CV275659
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL11A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 103,342,888
GRCh38 1 102,877,332
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
NC_000001.11:g.102877332G>A
NC_000001.10:g.103342888G>A
NM_001190709.2:c.*687C>T
NM_080629.3:c.*687C>T
More... 		06/14/2016 3 prime utr variant likely benign neonatal <1 / 1 000 000 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_001190709
Location:3UTRS;EXON

Gene Symbol:COL11A1
Accession:NM_080629
Location:3UTRS;EXON

Gene Symbol:COL11A1
Accession:NM_080630
Location:3UTRS;EXON

Gene Symbol:COL11A1
Accession:NM_001854
Location:3UTRS;EXON

Gene Symbol:COL11A1
Accession:XM_017000334
Location:3UTRS;EXON

Gene Symbol:COL11A1
Accession:XM_017000335
Location:3UTRS;EXON

Gene Symbol:COL11A1
Accession:XM_017000337
Location:3UTRS;EXON

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

Gene Symbol:COL11A1
Accession:XM_017000336
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000285076 CLINVAR
  RCV000377183 CLINVAR
dbSNP (RS) rs186072680 CLINVAR
MedGen C1858084 CLINVAR
  C3278138 CLINVAR
NCBI Gene COL11A1 CLINVAR
OMIM 120280 CLINVAR
  228520 CLINVAR
  604841 CLINVAR