RGD:13807366 Rat Genome Database

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Variant: RGD:13807366 -  Homo sapiens

RGD ID: 13807366
RS ID: rs1274606112
ClinVar ID: CV563731
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL12A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 75,848,163
GRCh38 6 75,138,447
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.75138447C>T
NC_000006.11:g.75848163C>T
NM_004370.5:c.5230+1G>A
NG_042181.1:g.72461G>A
More... 		10/13/2018 splice donor variant likely pathogenic Bethlem myopathy 2; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL12A1
Accession:NM_001424113
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_004370
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_001424114
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:COL12A1
Accession:XM_047418186
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_001424116
Location:INTRON

Gene Symbol:COL12A1
Accession:XM_047418184
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_001424115
Location:INTRON

Gene Symbol:COL12A1
Accession:XM_011535435
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:COL12A1
Accession:XM_017010252
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_080645
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:24334604   PMID:28492532   PMID:28973083  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000701069 CLINVAR
  RCV003228982 CLINVAR
dbSNP (RS) rs1274606112 CLINVAR
MedGen C3661900 CLINVAR
  C4225314 CLINVAR
NCBI Gene COL12A1 CLINVAR
OMIM 120320 CLINVAR
  616470 CLINVAR
  616471 CLINVAR