RGD:126915601 Rat Genome Database

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Variant: RGD:126915601 -  Homo sapiens

RGD ID: 126915601
RS ID: rs746467248
ClinVar ID: CV1044387
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL12A1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 75,890,649
GRCh38 6 75,180,933
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004370.6:c.2164+6A>T
NM_080645.3:c.73+21787A>T
NG_042181.1:g.29975A>T
NC_000006.12:g.75180933T>A
More... 		07/01/2020 intron variant uncertain significance Bethlem myopathy 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL12A1
Accession:NM_001424114
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_001424113
Location:INTRON

Gene Symbol:COL12A1
Accession:XM_047418186
Location:INTRON

Gene Symbol:COL12A1
Accession:XM_047418184
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_001424116
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_004370
Location:INTRON

Gene Symbol:COL12A1
Accession:XM_017010252
Location:INTRON

Gene Symbol:COL12A1
Accession:XM_011535435
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_080645
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_001424115
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001371012 CLINVAR
dbSNP (RS) rs746467248 CLINVAR
MedGen C4225314 CLINVAR
NCBI Gene COL12A1 CLINVAR
OMIM 120320 CLINVAR
  616470 CLINVAR
  616471 CLINVAR