RGD:13540547 Rat Genome Database

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Variant: RGD:13540547 -  Homo sapiens

RGD ID: 13540547
RS ID: rs917108673
ClinVar ID: CV501423
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL9A1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 70,993,426
GRCh38 6 70,283,723
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001377291.1:c.780+14C>G
NG_011654.1:g.24361C>G
NC_000006.12:g.70283723G>C
NC_000006.11:g.70993426G>C
More... 		01/19/2018 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:COL9A1
Accession:NM_001377289
Location:INTRON

Gene Symbol:COL9A1
Accession:NM_001851
Location:INTRON

Gene Symbol:COL9A1
Accession:XM_011535429
Location:INTRON

Gene Symbol:COL9A1
Accession:NM_001377290
Location:INTRON

Gene Symbol:COL9A1
Accession:NM_078485
Location:INTRON

Gene Symbol:COL9A1
Accession:XM_017010247
Location:INTRON

Gene Symbol:COL9A1
Accession:XM_047418180
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:NR_165185
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000614850 CLINVAR
dbSNP (RS) rs917108673 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene COL9A1 CLINVAR
OMIM 120210 CLINVAR