RGD:10048026 Rat Genome Database

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Variant: RGD:10048026 -  Homo sapiens

RGD ID: 10048026
RS ID: rs181039243
ClinVar ID: CV191993
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL9A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 70,976,482
GRCh38 6 70,266,779
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011654.1:g.41305A>G
NC_000006.12:g.70266779T>C
NC_000006.11:g.70976482T>C
NM_001851.4:c.1288-9A>G
More... 		11/09/2018 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:COL9A1
Accession:NM_078485
Location:INTRON

Gene Symbol:COL9A1
Accession:NM_001377290
Location:INTRON

Gene Symbol:COL9A1
Accession:NM_001851
Location:INTRON

Gene Symbol:COL9A1
Accession:XM_017010246
Location:INTRON

Gene Symbol:COL9A1
Accession:NM_001377291
Location:INTRON

Gene Symbol:COL9A1
Accession:XM_047418179
Location:INTRON

Gene Symbol:COL9A1
Accession:XM_011535429
Location:INTRON

Gene Symbol:COL9A1
Accession:XM_017010247
Location:INTRON

Gene Symbol:COL9A1
Accession:XM_047418180
Location:INTRON

Gene Symbol:COL9A1
Accession:NM_001377289
Location:INTRON

Gene Symbol:COL9A1
Accession:NR_165185
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000175294 CLINVAR
  RCV000917665 CLINVAR
dbSNP (RS) rs181039243 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL9A1 CLINVAR
OMIM 120210 CLINVAR