RGD:12843080 Rat Genome Database

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Variant: RGD:12843080 -  Homo sapiens

RGD ID: 12843080
RS ID: rs1057521170
ClinVar ID: CV364290
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL11A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 103,462,690
GRCh38 1 102,997,134
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.102997134G>A
NC_000001.10:g.103462690G>A
NM_001190709.2:c.2080-10C>T
NM_080629.3:c.2233-10C>T
More... 		12/03/2015 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:COL11A1
Accession:XM_017000335
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_001190709
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000337
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_001854
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_080629
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_080630
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000336
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000334
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 Information

Database Acc Id Source(s)
ClinVar RCV000435585 CLINVAR
dbSNP (RS) rs1057521170 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene COL11A1 CLINVAR
OMIM 120280 CLINVAR