RGD:14743690 Rat Genome Database

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Variant: RGD:14743690 -  Homo sapiens

RGD ID: 14743690
RS ID: rs1571000550
ClinVar ID: CV656875
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL11A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 103,468,843
GRCh38 1 103,003,287
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_080630.4:c.1597-19C>T
NM_001854.4:c.1945-19C>T
NG_008033.2:g.110210C>T
NC_000001.11:g.103003287G>A
More... 		09/27/2023 intron variant likely benign|uncertain significance AllHighlyPenetrant; none provided

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

Gene Symbol:COL11A1
Accession:NM_001190709
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000337
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_080630
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000335
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000334
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000336
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_001854
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000842233 CLINVAR
  RCV002234887 CLINVAR
dbSNP (RS) rs1571000550 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL11A1 CLINVAR
OMIM 120280 CLINVAR