RGD:127239729 Rat Genome Database

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Variant: RGD:127239729 -  Homo sapiens

RGD ID: 127239729
RS ID: rs752657028
ClinVar ID: CV1075895
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL27A1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 117,046,052
GRCh38 9 114,283,772
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032888.4:c.3933+10T>A
NG_034260.1:g.133228T>A
NC_000009.12:g.114283772T>A
NC_000009.11:g.117046052T>A
 09/09/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL27A1
Accession:NM_032888
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_006717308
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_006717310
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_011519138
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_011519142
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_011519143
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_011519144
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_011519140
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_011519145
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_017015239
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_047423992
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_047423993
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_047423994
Location:INTRON

Gene Symbol:COL27A1
Accession:XM_047423995
Location:INTRON

Gene Symbol:COL27A1
Accession:XR_929860
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001397634 CLINVAR
dbSNP (RS) rs752657028 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL27A1 CLINVAR
OMIM 608461 CLINVAR