RGD:14691275 Rat Genome Database

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Variant: RGD:14691275 -  Homo sapiens

RGD ID: 14691275
RS ID: rs1565681966
ClinVar ID: CV621823
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL2A1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 48,379,509
GRCh38 12 47,985,726
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.11:g.48379509A>C
NM_001844.5:c.1680+2T>G
NG_008072.1:g.23777T>G
NM_001844.4:c.1680+2T>G
More...
07/05/2018 splice donor variant likely pathogenic Achondrogenesis, Langer-Saldino type; Chondrogenesis imperfecta
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL2A1
Accession:NM_033150
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_001844
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018830
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018829
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018828
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018831
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_047428315
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000781309 CLINVAR
dbSNP (RS) rs1565681966 CLINVAR
MedGen C0220685 CLINVAR
NCBI Gene COL2A1 CLINVAR
OMIM 120140 CLINVAR
  200610 CLINVAR