RGD:12844599 Rat Genome Database

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Variant: RGD:12844599 -  Homo sapiens

RGD ID: 12844599
RS ID: rs146179957
ClinVar ID: CV364305
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL11A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 103,348,886
GRCh38 1 102,883,330
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.102883330T>C
NC_000001.10:g.103348886T>C
NM_001854.4:c.4859-19A>G
NG_008033.2:g.230167A>G
More... 		11/14/2016 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:COL11A1
Accession:NM_001190709
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000334
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000336
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_080630
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000335
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000337
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_080629
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_001854
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000438276 CLINVAR
  RCV002063514 CLINVAR
dbSNP (RS) rs146179957 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL11A1 CLINVAR
OMIM 120280 CLINVAR