RGD:14693396 Rat Genome Database

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Variant: RGD:14693396 -  Homo sapiens

RGD ID: 14693396
RS ID: rs1557789724
ClinVar ID: CV620702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL11A1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 103,364,221
GRCh38 1 102,898,665
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001854.4:c.4248+1G>T
NG_008033.2:g.214832G>T
NC_000001.11:g.102898665C>A
NC_000001.10:g.103364221C>A
More... 		09/11/2017 splice donor variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:COL11A1
Accession:NM_080630
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000334
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_001854
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000336
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000337
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000335
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_001190709
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_080629
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 RCV000778930 CLINVAR
dbSNP (RS) rs1557789724 CLINVAR
NCBI Gene COL11A1 CLINVAR
OMIM 120280 CLINVAR